Canonical Allele Identifier: CA338372123

Gene: MTOR

Linked Data

• dbSNP Id: rs2100568410
• MyVariant Identifiers: chr1:g.11217323T>A (hg19) ; chr1:g.11157266T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11157266T>A , CM000663.2:g.11157266T>A	GRCh38
NC_000001.10:g.11217323T>A , CM000663.1:g.11217323T>A	GRCh37
NC_000001.9:g.11139910T>A	NCBI36
NG_033239.1:g.110286A>T , LRG_734:g.110286A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703118.1:c.4355A>T	ENSP00000515181.1:p.Lys1452Ile
ENST00000703131.1:n.275A>T
ENST00000703140.1:c.4142A>T	ENSP00000515197.1:p.Lys1381Ile
ENST00000703141.1:c.4355A>T	ENSP00000515198.1:p.Lys1452Ile
ENST00000703142.1:c.*1185A>T	ENSP00000515199.1:n.*1185A>T
ENST00000361445.9:c.4355A>T MANE Select	ENSP00000354558.4:p.Lys1452Ile
ENST00000361445.8:c.4355A>T	ENSP00000354558.4:p.Lys1452Ile
NM_004958.3:c.4355A>T , LRG_734t1:c.4355A>T	NP_004949.1:p.Lys1452Ile
XM_005263438.1:c.4355A>T	XP_005263495.1:p.Lys1452Ile
XM_011541166.1:c.4355A>T	XP_011539468.1:p.Lys1452Ile
XR_244786.1:n.4476A>T
XM_005263438.2:c.4355A>T	XP_005263495.1:p.Lys1452Ile
XM_011541166.2:c.4355A>T	XP_011539468.1:p.Lys1452Ile
XM_017000900.1:c.3674A>T	XP_016856389.1:p.Lys1225Ile
XM_017000901.1:c.3107A>T	XP_016856390.1:p.Lys1036Ile
XM_024446187.1:c.4355A>T	XP_024301955.1:p.Lys1452Ile
XR_001737087.1:n.4476A>T
NM_004958.4:c.4355A>T MANE Select	NP_004949.1:p.Lys1452Ile
NM_001386500.1:c.4355A>T	NP_001373429.1:p.Lys1452Ile
NM_001386501.1:c.3107A>T	NP_001373430.1:p.Lys1036Ile