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Canonical Allele Identifier: CA381952893
Community Standard Title: NM_000260.4(MYO7A):c.5507T>G (p.Leu1836Arg)
Gene: MYO7A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77205488T>G , CM000673.2:g.77205488T>G GRCh38
NC_000011.9:g.76916533T>G , CM000673.1:g.76916533T>G GRCh37
NC_000011.8:g.76594181T>G NCBI36
NG_009086.1:g.82224T>G
NG_009086.2:g.82243T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000260.4:c.5507T>G MANE Select NP_000251.3:p.Leu1836Arg
ENST00000409709.9:c.5507T>G MANE Select ENSP00000386331.3:p.Leu1836Arg
NM_000260.3:c.5507T>G NP_000251.3:p.Leu1836Arg
NM_001127180.1:c.5393T>G NP_001120652.1:p.Leu1798Arg
NM_001127180.2:c.5393T>G NP_001120652.1:p.Leu1798Arg
NM_001369365.1:c.5360T>G NP_001356294.1:p.Leu1787Arg
ENST00000409619.6:c.5360T>G ENSP00000386635.2:p.Leu1787Arg
ENST00000409709.7:c.5507T>G ENSP00000386331.3:p.Leu1836Arg
ENST00000458169.2:c.2933T>G ENSP00000417017.2:p.Leu978Arg
ENST00000458637.6:c.5393T>G ENSP00000392185.2:p.Leu1798Arg
ENST00000481328.7:n.3043T>G
ENST00000605744.1:n.187-59T>G
ENST00000670577.1:c.3334T>G
XM_005274012.2:c.5390T>G XP_005274069.1:p.Leu1797Arg
XM_006718558.2:c.5498T>G XP_006718621.1:p.Leu1833Arg
XM_006718559.2:c.5393T>G XP_006718622.1:p.Leu1798Arg
XM_006718560.2:c.5390T>G XP_006718623.1:p.Leu1797Arg
XM_006718561.2:c.5393T>G XP_006718624.1:p.Leu1798Arg
XM_011545044.1:c.5507T>G XP_011543346.1:p.Leu1836Arg
XM_011545044.2:c.5507T>G XP_011543346.1:p.Leu1836Arg
XM_011545045.1:c.5501T>G XP_011543347.1:p.Leu1834Arg
XM_011545046.1:c.5474T>G XP_011543348.1:p.Leu1825Arg
XM_011545046.2:c.5597T>G XP_011543348.2:p.Leu1866Arg
XM_011545047.1:c.5411T>G XP_011543349.1:p.Leu1804Arg
XM_011545048.1:c.5282T>G XP_011543350.1:p.Leu1761Arg
XM_011545049.1:c.5270T>G XP_011543351.1:p.Leu1757Arg
XM_011545050.1:c.5243T>G XP_011543352.1:p.Leu1748Arg
XM_011545050.2:c.5243T>G XP_011543352.1:p.Leu1748Arg
XM_011545051.1:c.5507T>G XP_011543353.1:p.Leu1836Arg
XM_011545052.1:c.5481-59T>G XP_011543354.1:n.5481-59T>G
XM_017017778.1:c.5591T>G XP_016873267.1:p.Leu1864Arg
XM_017017779.1:c.5588T>G XP_016873268.1:p.Leu1863Arg
XM_017017780.1:c.5597T>G XP_016873269.1:p.Leu1866Arg
XM_017017781.1:c.5501T>G XP_016873270.1:p.Leu1834Arg
XM_017017782.1:c.5483T>G XP_016873271.1:p.Leu1828Arg
XM_017017783.1:c.5480T>G XP_016873272.1:p.Leu1827Arg
XM_017017784.1:c.5480T>G XP_016873273.1:p.Leu1827Arg
XM_017017785.1:c.5360T>G XP_016873274.1:p.Leu1787Arg
XM_017017786.1:c.5597T>G XP_016873275.1:p.Leu1866Arg
XM_017017788.1:c.5483T>G XP_016873277.1:p.Leu1828Arg
XR_001747885.1:n.5612T>G
XR_001747886.1:n.5586-59T>G
XR_001747887.1:n.5598T>G
XR_001747888.1:n.5572-59T>G
XR_949938.1:n.5827T>G
XR_949941.1:n.5827T>G
XR_949942.1:n.5789-59T>G
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