Canonical Allele Identifier: CA589029

Gene: MTOR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11122114G>A , CM000663.2:g.11122114G>A	GRCh38
NC_000001.10:g.11182171G>A , CM000663.1:g.11182171G>A	GRCh37
NC_000001.9:g.11104758G>A	NCBI36
NG_033239.1:g.145438C>T , LRG_734:g.145438C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004958.4:c.6675C>T MANE Select	NP_004949.1:p.Tyr2225=
ENST00000361445.9:c.6675C>T MANE Select	ENSP00000354558.4:p.Tyr2225=
NM_001386500.1:c.6675C>T	NP_001373429.1:p.Tyr2225=
NM_001386501.1:c.5427C>T	NP_001373430.1:p.Tyr1809=
NM_004958.3:c.6675C>T , LRG_734t1:c.6675C>T	NP_004949.1:p.Tyr2225=
ENST00000361445.8:c.6675C>T	ENSP00000354558.4:p.Tyr2225=
ENST00000376838.5:c.1290C>T	ENSP00000366034.1:p.Tyr430=
ENST00000703118.1:c.*2050C>T	ENSP00000515181.1:n.*2050C>T
ENST00000703131.1:n.2676C>T
ENST00000703139.1:c.1312C>T
ENST00000703140.1:c.6462C>T	ENSP00000515197.1:p.Tyr2154=
ENST00000703141.1:c.*2192C>T	ENSP00000515198.1:n.*2192C>T
ENST00000703142.1:c.*3505C>T	ENSP00000515199.1:n.*3505C>T
XM_005263438.1:c.6675C>T	XP_005263495.1:p.Tyr2225=
XM_005263438.2:c.6675C>T	XP_005263495.1:p.Tyr2225=
XM_017000900.1:c.5994C>T	XP_016856389.1:p.Tyr1998=
XM_017000901.1:c.5427C>T	XP_016856390.1:p.Tyr1809=
XM_024446187.1:c.6675C>T	XP_024301955.1:p.Tyr2225=
XR_001737087.1:n.6796C>T
XR_244786.1:n.6796C>T