Canonical Allele Identifier: CA588986

Gene: MTOR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11121304T>C , CM000663.2:g.11121304T>C	GRCh38
NC_000001.10:g.11181361T>C , CM000663.1:g.11181361T>C	GRCh37
NC_000001.9:g.11103948T>C	NCBI36
NG_033239.1:g.146248A>G , LRG_734:g.146248A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004958.4:c.6875A>G MANE Select	NP_004949.1:p.Asn2292Ser
ENST00000361445.9:c.6875A>G MANE Select	ENSP00000354558.4:p.Asn2292Ser
NM_001386500.1:c.6875A>G	NP_001373429.1:p.Asn2292Ser
NM_001386501.1:c.5627A>G	NP_001373430.1:p.Asn1876Ser
NM_004958.3:c.6875A>G , LRG_734t1:c.6875A>G	NP_004949.1:p.Asn2292Ser
ENST00000361445.8:c.6875A>G	ENSP00000354558.4:p.Asn2292Ser
ENST00000376838.5:c.1490A>G	ENSP00000366034.1:p.Asn497Ser
ENST00000703118.1:c.*2250A>G	ENSP00000515181.1:n.*2250A>G
ENST00000703131.1:n.2876A>G
ENST00000703139.1:c.1512A>G
ENST00000703140.1:c.6662A>G	ENSP00000515197.1:p.Asn2221Ser
ENST00000703141.1:c.*2392A>G	ENSP00000515198.1:n.*2392A>G
ENST00000703142.1:c.*3705A>G	ENSP00000515199.1:n.*3705A>G
XM_005263438.1:c.6875A>G	XP_005263495.1:p.Asn2292Ser
XM_005263438.2:c.6875A>G	XP_005263495.1:p.Asn2292Ser
XM_017000900.1:c.6194A>G	XP_016856389.1:p.Asn2065Ser
XM_017000901.1:c.5627A>G	XP_016856390.1:p.Asn1876Ser
XM_024446187.1:c.6875A>G	XP_024301955.1:p.Asn2292Ser
XR_001737087.1:n.6996A>G
XR_244786.1:n.6996A>G