Canonical Allele Identifier: CA415923131

Gene: MTOR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11238535G>A , CM000663.2:g.11238535G>A	GRCh38
NC_000001.10:g.11298592G>A , CM000663.1:g.11298592G>A	GRCh37
NC_000001.9:g.11221179G>A	NCBI36
NG_033239.1:g.29017C>T , LRG_734:g.29017C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004958.4:c.1869C>T MANE Select	NP_004949.1:p.Ala623=
ENST00000361445.9:c.1869C>T MANE Select	ENSP00000354558.4:p.Ala623=
NM_001386500.1:c.1869C>T	NP_001373429.1:p.Ala623=
NM_001386501.1:c.621C>T	NP_001373430.1:p.Ala207=
NM_004958.3:c.1869C>T , LRG_734t1:c.1869C>T	NP_004949.1:p.Ala623=
ENST00000361445.8:c.1869C>T	ENSP00000354558.4:p.Ala623=
ENST00000703118.1:c.1869C>T	ENSP00000515181.1:p.Ala623=
ENST00000703132.1:n.1741C>T
ENST00000703140.1:c.1869C>T	ENSP00000515197.1:p.Ala623=
ENST00000703141.1:c.1869C>T	ENSP00000515198.1:p.Ala623=
ENST00000703142.1:c.1787-487C>T	ENSP00000515199.1:n.1787-487C>T
XM_005263438.1:c.1869C>T	XP_005263495.1:p.Ala623=
XM_005263438.2:c.1869C>T	XP_005263495.1:p.Ala623=
XM_011541166.1:c.1869C>T	XP_011539468.1:p.Ala623=
XM_011541166.2:c.1869C>T	XP_011539468.1:p.Ala623=
XM_017000900.1:c.1188C>T	XP_016856389.1:p.Ala396=
XM_017000901.1:c.621C>T	XP_016856390.1:p.Ala207=
XM_017000902.1:c.1869C>T	XP_016856391.1:p.Ala623=
XM_024446187.1:c.1869C>T	XP_024301955.1:p.Ala623=
XR_001737087.1:n.1990C>T
XR_244786.1:n.1990C>T