Canonical Allele Identifier: CA199563

Gene: MTOR

Linked Data

• ClinVar Variation Id: 190121
• ClinVar RCV Id: RCV000170355 ; RCV000224544 ; RCV000431004 ; RCV000420307 ; RCV000441022
• dbSNP Id: rs786205165
• COSMIC: COSM462616
• MyVariant Identifiers: chr1:g.11217230C>A (hg19) ; chr1:g.11157173C>A (hg38)
• PubMed: PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11157173C>A , CM000663.2:g.11157173C>A	GRCh38
NC_000001.10:g.11217230C>A , CM000663.1:g.11217230C>A	GRCh37
NC_000001.9:g.11139817C>A	NCBI36
NG_033239.1:g.110379G>T , LRG_734:g.110379G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703118.1:c.4448G>T	ENSP00000515181.1:p.Cys1483Phe
ENST00000703131.1:n.368G>T
ENST00000703140.1:c.4235G>T	ENSP00000515197.1:p.Cys1412Phe
ENST00000703141.1:c.4448G>T	ENSP00000515198.1:p.Cys1483Phe
ENST00000703142.1:c.*1278G>T	ENSP00000515199.1:n.*1278G>T
ENST00000361445.9:c.4448G>T MANE Select	ENSP00000354558.4:p.Cys1483Phe
ENST00000361445.8:c.4448G>T	ENSP00000354558.4:p.Cys1483Phe
NM_004958.3:c.4448G>T , LRG_734t1:c.4448G>T	NP_004949.1:p.Cys1483Phe
XM_005263438.1:c.4448G>T	XP_005263495.1:p.Cys1483Phe
XM_011541166.1:c.4448G>T	XP_011539468.1:p.Cys1483Phe
XR_244786.1:n.4569G>T
XM_005263438.2:c.4448G>T	XP_005263495.1:p.Cys1483Phe
XM_011541166.2:c.4448G>T	XP_011539468.1:p.Cys1483Phe
XM_017000900.1:c.3767G>T	XP_016856389.1:p.Cys1256Phe
XM_017000901.1:c.3200G>T	XP_016856390.1:p.Cys1067Phe
XM_024446187.1:c.4448G>T	XP_024301955.1:p.Cys1483Phe
XR_001737087.1:n.4569G>T
NM_004958.4:c.4448G>T MANE Select	NP_004949.1:p.Cys1483Phe
NM_001386500.1:c.4448G>T	NP_001373429.1:p.Cys1483Phe
NM_001386501.1:c.3200G>T	NP_001373430.1:p.Cys1067Phe