Canonical Allele Identifier: CA338387270

Gene: MTOR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11124516G>C , CM000663.2:g.11124516G>C	GRCh38
NC_000001.10:g.11184573G>C , CM000663.1:g.11184573G>C	GRCh37
NC_000001.9:g.11107160G>C	NCBI36
NG_033239.1:g.143036C>G , LRG_734:g.143036C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703118.1:c.*2019C>G	ENSP00000515181.1:n.*2019C>G
ENST00000703131.1:n.2645C>G
ENST00000703139.1:c.1281C>G
ENST00000703140.1:c.6431C>G	ENSP00000515197.1:p.Ser2144Cys
ENST00000703141.1:c.*2161C>G	ENSP00000515198.1:n.*2161C>G
ENST00000703142.1:c.*3474C>G	ENSP00000515199.1:n.*3474C>G
ENST00000361445.9:c.6644C>G MANE Select	ENSP00000354558.4:p.Ser2215Cys
ENST00000361445.8:c.6644C>G	ENSP00000354558.4:p.Ser2215Cys
ENST00000376838.5:c.1259C>G	ENSP00000366034.1:p.Ser420Cys
NM_004958.3:c.6644C>G , LRG_734t1:c.6644C>G	NP_004949.1:p.Ser2215Cys
XM_005263438.1:c.6644C>G	XP_005263495.1:p.Ser2215Cys
XR_244786.1:n.6765C>G
XM_005263438.2:c.6644C>G	XP_005263495.1:p.Ser2215Cys
XM_017000900.1:c.5963C>G	XP_016856389.1:p.Ser1988Cys
XM_017000901.1:c.5396C>G	XP_016856390.1:p.Ser1799Cys
XM_024446187.1:c.6644C>G	XP_024301955.1:p.Ser2215Cys
XR_001737087.1:n.6765C>G
NM_004958.4:c.6644C>G MANE Select	NP_004949.1:p.Ser2215Cys
NM_001386500.1:c.6644C>G	NP_001373429.1:p.Ser2215Cys
NM_001386501.1:c.5396C>G	NP_001373430.1:p.Ser1799Cys