Canonical Allele Identifier: CA338399599
Gene: MTOR HGNC NCBI

Linked Data

ClinVar Variation Id: 2486985
ClinVar RCV Id: RCV003210775
MyVariant Identifiers: chr1:g.11307938C>A (hg19) chr1:g.11247881C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11247881C>A , CM000663.2:g.11247881C>A GRCh38
NC_000001.10:g.11307938C>A , CM000663.1:g.11307938C>A GRCh37
NC_000001.9:g.11230525C>A NCBI36
NG_033239.1:g.19671G>T , LRG_734:g.19671G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703118.1:c.1054G>T ENSP00000515181.1:p.Ala352Ser
ENST00000703132.1:n.1035G>T
ENST00000703140.1:c.1054G>T ENSP00000515197.1:p.Ala352Ser
ENST00000703141.1:c.1054G>T ENSP00000515198.1:p.Ala352Ser
ENST00000703142.1:c.1054G>T ENSP00000515199.1:p.Ala352Ser
ENST00000703143.1:c.1054G>T ENSP00000515200.1:p.Ala352Ser
ENST00000703144.1:n.24G>T
ENST00000361445.9:c.1054G>T MANE Select ENSP00000354558.4:p.Ala352Ser
ENST00000361445.8:c.1054G>T ENSP00000354558.4:p.Ala352Ser
NM_004958.3:c.1054G>T , LRG_734t1:c.1054G>T NP_004949.1:p.Ala352Ser
XM_005263438.1:c.1054G>T XP_005263495.1:p.Ala352Ser
XM_011541166.1:c.1054G>T XP_011539468.1:p.Ala352Ser
XR_244786.1:n.1175G>T
XM_005263438.2:c.1054G>T XP_005263495.1:p.Ala352Ser
XM_011541166.2:c.1054G>T XP_011539468.1:p.Ala352Ser
XM_017000900.1:c.373G>T XP_016856389.1:p.Ala125Ser
XM_017000901.1:c.-86G>T XP_016856390.1:n.-86G>T
XM_017000902.1:c.1054G>T XP_016856391.1:p.Ala352Ser
XM_024446187.1:c.1054G>T XP_024301955.1:p.Ala352Ser
XR_001737087.1:n.1175G>T
NM_004958.4:c.1054G>T MANE Select NP_004949.1:p.Ala352Ser
NM_001386500.1:c.1054G>T NP_001373429.1:p.Ala352Ser
NM_001386501.1:c.-86G>T NP_001373430.1:n.-86G>T
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