Canonical Allele Identifier: CA590818

Gene: MTOR

Linked Data

• ClinVar Variation Id: 1141915
• ClinVar RCV Id: RCV001479509
• dbSNP Id: rs772176837
• ExAC: 1:11307915 G / A
• gnomAD v2: 1-11307915-G-A
• gnomAD v3: 1-11247858-G-A
• gnomAD v4: 1-11247858-G-A
• MyVariant Identifiers: chr1:g.11307915G>A (hg19) ; chr1:g.11247858G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11247858G>A , CM000663.2:g.11247858G>A	GRCh38
NC_000001.10:g.11307915G>A , CM000663.1:g.11307915G>A	GRCh37
NC_000001.9:g.11230502G>A	NCBI36
NG_033239.1:g.19694C>T , LRG_734:g.19694C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703118.1:c.1077C>T	ENSP00000515181.1:p.Ser359=
ENST00000703132.1:n.1058C>T
ENST00000703140.1:c.1077C>T	ENSP00000515197.1:p.Ser359=
ENST00000703141.1:c.1077C>T	ENSP00000515198.1:p.Ser359=
ENST00000703142.1:c.1077C>T	ENSP00000515199.1:p.Ser359=
ENST00000703143.1:c.1077C>T	ENSP00000515200.1:p.Ser359=
ENST00000703144.1:n.47C>T
ENST00000361445.9:c.1077C>T MANE Select	ENSP00000354558.4:p.Ser359=
ENST00000361445.8:c.1077C>T	ENSP00000354558.4:p.Ser359=
NM_004958.3:c.1077C>T , LRG_734t1:c.1077C>T	NP_004949.1:p.Ser359=
XM_005263438.1:c.1077C>T	XP_005263495.1:p.Ser359=
XM_011541166.1:c.1077C>T	XP_011539468.1:p.Ser359=
XR_244786.1:n.1198C>T
XM_005263438.2:c.1077C>T	XP_005263495.1:p.Ser359=
XM_011541166.2:c.1077C>T	XP_011539468.1:p.Ser359=
XM_017000900.1:c.396C>T	XP_016856389.1:p.Ser132=
XM_017000901.1:c.-63C>T	XP_016856390.1:n.-63C>T
XM_017000902.1:c.1077C>T	XP_016856391.1:p.Ser359=
XM_024446187.1:c.1077C>T	XP_024301955.1:p.Ser359=
XR_001737087.1:n.1198C>T
NM_004958.4:c.1077C>T MANE Select	NP_004949.1:p.Ser359=
NM_001386500.1:c.1077C>T	NP_001373429.1:p.Ser359=
NM_001386501.1:c.-63C>T	NP_001373430.1:n.-63C>T