Canonical Allele Identifier: CA338393920
Gene: MTOR HGNC NCBI

Linked Data

ClinVar Variation Id: 948357
ClinVar RCV Id: RCV001219594
dbSNP Id: rs1642913562
MyVariant Identifiers: chr1:g.11187796G>A (hg19) chr1:g.11127739G>A (hg38)
CIViC: CA338393920
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11127739G>A , CM000663.2:g.11127739G>A GRCh38
NC_000001.10:g.11187796G>A , CM000663.1:g.11187796G>A GRCh37
NC_000001.9:g.11110383G>A NCBI36
NG_033239.1:g.139813C>T , LRG_734:g.139813C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000703118.1:c.*1476C>T ENSP00000515181.1:n.*1476C>T
ENST00000703131.1:n.2102C>T
ENST00000703139.1:c.738C>T
ENST00000703140.1:c.5888C>T ENSP00000515197.1:p.Ala1963Val
ENST00000703141.1:c.*1618C>T ENSP00000515198.1:n.*1618C>T
ENST00000703142.1:c.*2931C>T ENSP00000515199.1:n.*2931C>T
ENST00000361445.9:c.6101C>T MANE Select ENSP00000354558.4:p.Ala2034Val
ENST00000361445.8:c.6101C>T ENSP00000354558.4:p.Ala2034Val
ENST00000376838.5:c.716C>T ENSP00000366034.1:p.Ala239Val
NM_004958.3:c.6101C>T , LRG_734t1:c.6101C>T NP_004949.1:p.Ala2034Val
XM_005263438.1:c.6101C>T XP_005263495.1:p.Ala2034Val
XR_244786.1:n.6222C>T
XM_005263438.2:c.6101C>T XP_005263495.1:p.Ala2034Val
XM_017000900.1:c.5420C>T XP_016856389.1:p.Ala1807Val
XM_017000901.1:c.4853C>T XP_016856390.1:p.Ala1618Val
XM_024446187.1:c.6101C>T XP_024301955.1:p.Ala2034Val
XR_001737087.1:n.6222C>T
NM_004958.4:c.6101C>T MANE Select NP_004949.1:p.Ala2034Val
NM_001386500.1:c.6101C>T NP_001373429.1:p.Ala2034Val
NM_001386501.1:c.4853C>T NP_001373430.1:p.Ala1618Val
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