Canonical Allele Identifier: CA338378745

Gene: MTOR

Linked Data

• dbSNP Id: rs2100287343
• MyVariant Identifiers: chr1:g.11169413C>A (hg19) ; chr1:g.11109356C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11109356C>A , CM000663.2:g.11109356C>A	GRCh38
NC_000001.10:g.11169413C>A , CM000663.1:g.11169413C>A	GRCh37
NC_000001.9:g.11092000C>A	NCBI36
NG_033239.1:g.158196G>T , LRG_734:g.158196G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703118.1:c.*2837G>T	ENSP00000515181.1:n.*2837G>T
ENST00000703131.1:n.3380G>T
ENST00000703139.1:c.2250G>T
ENST00000703140.1:c.7249G>T	ENSP00000515197.1:p.Val2417Leu
ENST00000703141.1:c.*2979G>T	ENSP00000515198.1:n.*2979G>T
ENST00000703142.1:c.*4292G>T	ENSP00000515199.1:n.*4292G>T
ENST00000361445.9:c.7462G>T MANE Select	ENSP00000354558.4:p.Val2488Leu
ENST00000361445.8:c.7462G>T	ENSP00000354558.4:p.Val2488Leu
ENST00000376838.5:c.2077G>T	ENSP00000366034.1:p.Val693Leu
ENST00000455339.1:c.430G>T	ENSP00000398745.1:p.Val144Leu
ENST00000473471.5:n.474G>T
ENST00000490931.1:n.745G>T
NM_004958.3:c.7462G>T , LRG_734t1:c.7462G>T	NP_004949.1:p.Val2488Leu
XM_005263438.1:c.7462G>T	XP_005263495.1:p.Val2488Leu
XM_005263438.2:c.7462G>T	XP_005263495.1:p.Val2488Leu
XM_017000900.1:c.6781G>T	XP_016856389.1:p.Val2261Leu
XM_017000901.1:c.6214G>T	XP_016856390.1:p.Val2072Leu
XM_024446187.1:c.7462G>T	XP_024301955.1:p.Val2488Leu
XR_001737087.1:n.7500G>T
NM_004958.4:c.7462G>T MANE Select	NP_004949.1:p.Val2488Leu
NM_001386500.1:c.7462G>T	NP_001373429.1:p.Val2488Leu
NM_001386501.1:c.6214G>T	NP_001373430.1:p.Val2072Leu