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: CA338394568
Gene: MTOR HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11128072T>A , CM000663.2:g.11128072T>A GRCh38
NC_000001.10:g.11188129T>A , CM000663.1:g.11188129T>A GRCh37
NC_000001.9:g.11110716T>A NCBI36
NG_033239.1:g.139480A>T , LRG_734:g.139480A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703118.1:c.*1340A>T ENSP00000515181.1:n.*1340A>T
ENST00000703131.1:n.1769A>T
ENST00000703139.1:c.602A>T
ENST00000703140.1:c.5752A>T ENSP00000515197.1:p.Asn1918Tyr
ENST00000703141.1:c.*1285A>T ENSP00000515198.1:n.*1285A>T
ENST00000703142.1:c.*2795A>T ENSP00000515199.1:n.*2795A>T
ENST00000361445.9:c.5965A>T MANE Select ENSP00000354558.4:p.Asn1989Tyr
ENST00000361445.8:c.5965A>T ENSP00000354558.4:p.Asn1989Tyr
ENST00000376838.5:c.580A>T ENSP00000366034.1:p.Asn194Tyr
NM_004958.3:c.5965A>T , LRG_734t1:c.5965A>T NP_004949.1:p.Asn1989Tyr
XM_005263438.1:c.5965A>T XP_005263495.1:p.Asn1989Tyr
XR_244786.1:n.6086A>T
XM_005263438.2:c.5965A>T XP_005263495.1:p.Asn1989Tyr
XM_017000900.1:c.5284A>T XP_016856389.1:p.Asn1762Tyr
XM_017000901.1:c.4717A>T XP_016856390.1:p.Asn1573Tyr
XM_024446187.1:c.5965A>T XP_024301955.1:p.Asn1989Tyr
XR_001737087.1:n.6086A>T
NM_004958.4:c.5965A>T MANE Select NP_004949.1:p.Asn1989Tyr
NM_001386500.1:c.5965A>T NP_001373429.1:p.Asn1989Tyr
NM_001386501.1:c.4717A>T NP_001373430.1:p.Asn1573Tyr
Search 100 bp 5'
Search 100 bp 3'