Canonical Allele Identifier: CA338374693

Gene: MTOR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11213438G>T , CM000663.2:g.11213438G>T	GRCh38
NC_000001.10:g.11273495G>T , CM000663.1:g.11273495G>T	GRCh37
NC_000001.9:g.11196082G>T	NCBI36
NG_033239.1:g.54114C>A , LRG_734:g.54114C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004958.4:c.3246C>A MANE Select	NP_004949.1:p.Phe1082Leu
ENST00000361445.9:c.3246C>A MANE Select	ENSP00000354558.4:p.Phe1082Leu
NM_001386500.1:c.3246C>A	NP_001373429.1:p.Phe1082Leu
NM_001386501.1:c.1998C>A	NP_001373430.1:p.Phe666Leu
NM_004958.3:c.3246C>A , LRG_734t1:c.3246C>A	NP_004949.1:p.Phe1082Leu
ENST00000361445.8:c.3246C>A	ENSP00000354558.4:p.Phe1082Leu
ENST00000703118.1:c.3246C>A	ENSP00000515181.1:p.Phe1082Leu
ENST00000703140.1:c.3033C>A	ENSP00000515197.1:p.Phe1011Leu
ENST00000703141.1:c.3246C>A	ENSP00000515198.1:p.Phe1082Leu
ENST00000703142.1:c.*76C>A	ENSP00000515199.1:n.*76C>A
XM_005263438.1:c.3246C>A	XP_005263495.1:p.Phe1082Leu
XM_005263438.2:c.3246C>A	XP_005263495.1:p.Phe1082Leu
XM_011541166.1:c.3246C>A	XP_011539468.1:p.Phe1082Leu
XM_011541166.2:c.3246C>A	XP_011539468.1:p.Phe1082Leu
XM_017000900.1:c.2565C>A	XP_016856389.1:p.Phe855Leu
XM_017000901.1:c.1998C>A	XP_016856390.1:p.Phe666Leu
XM_017000902.1:c.3246C>A	XP_016856391.1:p.Phe1082Leu
XM_024446187.1:c.3246C>A	XP_024301955.1:p.Phe1082Leu
XR_001737087.1:n.3367C>A
XR_244786.1:n.3367C>A