Canonical Allele Identifier: CA338402061

Gene: MTOR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11139429C>A , CM000663.2:g.11139429C>A	GRCh38
NC_000001.10:g.11199486C>A , CM000663.1:g.11199486C>A	GRCh37
NC_000001.9:g.11122073C>A	NCBI36
NG_033239.1:g.128123G>T , LRG_734:g.128123G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004958.4:c.5005G>T MANE Select	NP_004949.1:p.Ala1669Ser
ENST00000361445.9:c.5005G>T MANE Select	ENSP00000354558.4:p.Ala1669Ser
NM_001386500.1:c.5005G>T	NP_001373429.1:p.Ala1669Ser
NM_001386501.1:c.3757G>T	NP_001373430.1:p.Ala1253Ser
NM_004958.3:c.5005G>T , LRG_734t1:c.5005G>T	NP_004949.1:p.Ala1669Ser
ENST00000361445.8:c.5005G>T	ENSP00000354558.4:p.Ala1669Ser
ENST00000476768.1:n.135G>T
ENST00000495435.1:n.511G>T
ENST00000703118.1:c.*380G>T	ENSP00000515181.1:n.*380G>T
ENST00000703131.1:n.925G>T
ENST00000703140.1:c.4792G>T	ENSP00000515197.1:p.Ala1598Ser
ENST00000703141.1:c.*325G>T	ENSP00000515198.1:n.*325G>T
ENST00000703142.1:c.*1835G>T	ENSP00000515199.1:n.*1835G>T
XM_005263438.1:c.5005G>T	XP_005263495.1:p.Ala1669Ser
XM_005263438.2:c.5005G>T	XP_005263495.1:p.Ala1669Ser
XM_017000900.1:c.4324G>T	XP_016856389.1:p.Ala1442Ser
XM_017000901.1:c.3757G>T	XP_016856390.1:p.Ala1253Ser
XM_024446187.1:c.5005G>T	XP_024301955.1:p.Ala1669Ser
XR_001737087.1:n.5126G>T
XR_244786.1:n.5126G>T