Canonical Allele Identifier: CA338394235

Gene: MTOR

Linked Data

• dbSNP Id: rs1057519780
• MyVariant Identifiers: chr1:g.11187857C>A (hg19) ; chr1:g.11127800C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11127800C>A , CM000663.2:g.11127800C>A	GRCh38
NC_000001.10:g.11187857C>A , CM000663.1:g.11187857C>A	GRCh37
NC_000001.9:g.11110444C>A	NCBI36
NG_033239.1:g.139752G>T , LRG_734:g.139752G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703118.1:c.*1415G>T	ENSP00000515181.1:n.*1415G>T
ENST00000703131.1:n.2041G>T
ENST00000703139.1:c.677G>T
ENST00000703140.1:c.5827G>T	ENSP00000515197.1:p.Glu1943Ter
ENST00000703141.1:c.*1557G>T	ENSP00000515198.1:n.*1557G>T
ENST00000703142.1:c.*2870G>T	ENSP00000515199.1:n.*2870G>T
ENST00000361445.9:c.6040G>T MANE Select	ENSP00000354558.4:p.Glu2014Ter
ENST00000361445.8:c.6040G>T	ENSP00000354558.4:p.Glu2014Ter
ENST00000376838.5:c.655G>T	ENSP00000366034.1:p.Glu219Ter
NM_004958.3:c.6040G>T , LRG_734t1:c.6040G>T	NP_004949.1:p.Glu2014Ter
XM_005263438.1:c.6040G>T	XP_005263495.1:p.Glu2014Ter
XR_244786.1:n.6161G>T
XM_005263438.2:c.6040G>T	XP_005263495.1:p.Glu2014Ter
XM_017000900.1:c.5359G>T	XP_016856389.1:p.Glu1787Ter
XM_017000901.1:c.4792G>T	XP_016856390.1:p.Glu1598Ter
XM_024446187.1:c.6040G>T	XP_024301955.1:p.Glu2014Ter
XR_001737087.1:n.6161G>T
NM_004958.4:c.6040G>T MANE Select	NP_004949.1:p.Glu2014Ter
NM_001386500.1:c.6040G>T	NP_001373429.1:p.Glu2014Ter
NM_001386501.1:c.4792G>T	NP_001373430.1:p.Glu1598Ter