This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA1984126889
Gene: MYO7A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77205476G= , CM000673.2:g.77205476G= GRCh38
NC_000011.9:g.76916521G= , CM000673.1:g.76916521G= GRCh37
NC_000011.8:g.76594169G= NCBI36
NG_009086.1:g.82212G=
NG_009086.2:g.82231G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.5495G= MANE Select ENSP00000386331.3:p.Arg1832=
ENST00000670577.1:c.3322G=
ENST00000409619.6:c.5348G= ENSP00000386635.2:p.Arg1783=
ENST00000409709.7:c.5495G= ENSP00000386331.3:p.Arg1832=
ENST00000458169.2:c.2921G= ENSP00000417017.2:p.Arg974=
ENST00000458637.6:c.5381G= ENSP00000392185.2:p.Arg1794=
ENST00000481328.7:n.3031G=
ENST00000605744.1:n.187-71G=
NM_000260.3:c.5495G= NP_000251.3:p.Arg1832=
NM_001127180.1:c.5381G= NP_001120652.1:p.Arg1794=
XM_005274012.2:c.5378G= XP_005274069.1:p.Arg1793=
XM_006718558.2:c.5486G= XP_006718621.1:p.Arg1829=
XM_006718559.2:c.5381G= XP_006718622.1:p.Arg1794=
XM_006718560.2:c.5378G= XP_006718623.1:p.Arg1793=
XM_006718561.2:c.5381G= XP_006718624.1:p.Arg1794=
XM_011545044.1:c.5495G= XP_011543346.1:p.Arg1832=
XM_011545045.1:c.5489G= XP_011543347.1:p.Arg1830=
XM_011545046.1:c.5462G= XP_011543348.1:p.Arg1821=
XM_011545047.1:c.5399G= XP_011543349.1:p.Arg1800=
XM_011545048.1:c.5270G= XP_011543350.1:p.Arg1757=
XM_011545049.1:c.5258G= XP_011543351.1:p.Arg1753=
XM_011545050.1:c.5231G= XP_011543352.1:p.Arg1744=
XM_011545051.1:c.5495G= XP_011543353.1:p.Arg1832=
XM_011545052.1:c.5481-71G= XP_011543354.1:n.5481-71G=
XR_949938.1:n.5815G=
XR_949941.1:n.5815G=
XR_949942.1:n.5789-71G=
XM_011545044.2:c.5495G= XP_011543346.1:p.Arg1832=
XM_011545046.2:c.5585G= XP_011543348.2:p.Arg1862=
XM_011545050.2:c.5231G= XP_011543352.1:p.Arg1744=
XM_017017778.1:c.5579G= XP_016873267.1:p.Arg1860=
XM_017017779.1:c.5576G= XP_016873268.1:p.Arg1859=
XM_017017780.1:c.5585G= XP_016873269.1:p.Arg1862=
XM_017017781.1:c.5489G= XP_016873270.1:p.Arg1830=
XM_017017782.1:c.5471G= XP_016873271.1:p.Arg1824=
XM_017017783.1:c.5468G= XP_016873272.1:p.Arg1823=
XM_017017784.1:c.5468G= XP_016873273.1:p.Arg1823=
XM_017017785.1:c.5348G= XP_016873274.1:p.Arg1783=
XM_017017786.1:c.5585G= XP_016873275.1:p.Arg1862=
XM_017017788.1:c.5471G= XP_016873277.1:p.Arg1824=
XR_001747885.1:n.5600G=
XR_001747886.1:n.5586-71G=
XR_001747887.1:n.5586G=
XR_001747888.1:n.5572-71G=
NM_000260.4:c.5495G= MANE Select NP_000251.3:p.Arg1832=
NM_001127180.2:c.5381G= NP_001120652.1:p.Arg1794=
NM_001369365.1:c.5348G= NP_001356294.1:p.Arg1783=