Canonical Allele Identifier: CA589167

Gene: MTOR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11127711G>A , CM000663.2:g.11127711G>A	GRCh38
NC_000001.10:g.11187768G>A , CM000663.1:g.11187768G>A	GRCh37
NC_000001.9:g.11110355G>A	NCBI36
NG_033239.1:g.139841C>T , LRG_734:g.139841C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004958.4:c.6129C>T MANE Select	NP_004949.1:p.Asn2043=
ENST00000361445.9:c.6129C>T MANE Select	ENSP00000354558.4:p.Asn2043=
NM_001386500.1:c.6129C>T	NP_001373429.1:p.Asn2043=
NM_001386501.1:c.4881C>T	NP_001373430.1:p.Asn1627=
NM_004958.3:c.6129C>T , LRG_734t1:c.6129C>T	NP_004949.1:p.Asn2043=
ENST00000361445.8:c.6129C>T	ENSP00000354558.4:p.Asn2043=
ENST00000376838.5:c.744C>T	ENSP00000366034.1:p.Asn248=
ENST00000703118.1:c.*1504C>T	ENSP00000515181.1:n.*1504C>T
ENST00000703131.1:n.2130C>T
ENST00000703139.1:c.766C>T
ENST00000703140.1:c.5916C>T	ENSP00000515197.1:p.Asn1972=
ENST00000703141.1:c.*1646C>T	ENSP00000515198.1:n.*1646C>T
ENST00000703142.1:c.*2959C>T	ENSP00000515199.1:n.*2959C>T
XM_005263438.1:c.6129C>T	XP_005263495.1:p.Asn2043=
XM_005263438.2:c.6129C>T	XP_005263495.1:p.Asn2043=
XM_017000900.1:c.5448C>T	XP_016856389.1:p.Asn1816=
XM_017000901.1:c.4881C>T	XP_016856390.1:p.Asn1627=
XM_024446187.1:c.6129C>T	XP_024301955.1:p.Asn2043=
XR_001737087.1:n.6250C>T
XR_244786.1:n.6250C>T