Canonical Allele Identifier: CA589747

Gene: MTOR ANGPTL7

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11189840C>G , CM000663.2:g.11189840C>G	GRCh38
NC_000001.10:g.11249897C>G , CM000663.1:g.11249897C>G	GRCh37
NC_000001.9:g.11172484C>G	NCBI36
NG_033239.1:g.77712G>C , LRG_734:g.77712G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703118.1:c.4253+9418G>C (MTOR)	ENSP00000515181.1:n.4253+9418G>C
ENST00000703131.1:n.173+3718G>C (MTOR)
ENST00000703140.1:c.4040+9418G>C (MTOR)	ENSP00000515197.1:n.4040+9418G>C
ENST00000703141.1:c.4253+9418G>C (MTOR)	ENSP00000515198.1:n.4253+9418G>C
ENST00000703142.1:c.*1083+9418G>C (MTOR)	ENSP00000515199.1:n.*1083+9418G>C
ENST00000361445.9:c.4253+9418G>C (MTOR) MANE Select	ENSP00000354558.4:n.4253+9418G>C
ENST00000376819.4:c.261C>G (ANGPTL7) MANE Select	ENSP00000366015.3:p.Asn87Lys
ENST00000361445.8:c.4253+9418G>C (MTOR)	ENSP00000354558.4:n.4253+9418G>C
ENST00000376819.3:c.261C>G (ANGPTL7)	ENSP00000366015.3:p.Asn87Lys
NM_004958.3:c.4253+9418G>C , LRG_734t1:c.4253+9418G>C (MTOR)	NP_004949.1:n.4253+9418G>C
NM_021146.3:c.261C>G (ANGPTL7)	NP_066969.1:p.Asn87Lys
XM_005263438.1:c.4253+9418G>C (MTOR)	XP_005263495.1:n.4253+9418G>C
XM_011541166.1:c.4253+9418G>C (MTOR)	XP_011539468.1:n.4253+9418G>C
XR_244786.1:n.4374+9418G>C (MTOR)
XM_005263438.2:c.4253+9418G>C (MTOR)	XP_005263495.1:n.4253+9418G>C
XM_011541166.2:c.4253+9418G>C (MTOR)	XP_011539468.1:n.4253+9418G>C
XM_017000004.1:c.261C>G (ANGPTL7)	XP_016855493.1:p.Asn87Lys
XM_017000900.1:c.3572+9418G>C (MTOR)	XP_016856389.1:n.3572+9418G>C
XM_017000901.1:c.3005+9418G>C (MTOR)	XP_016856390.1:n.3005+9418G>C
XM_017000902.1:c.4254-4245G>C (MTOR)	XP_016856391.1:n.4254-4245G>C
XM_024446187.1:c.4253+9418G>C (MTOR)	XP_024301955.1:n.4253+9418G>C
XR_001736901.1:n.517C>G (ANGPTL7)
XR_001737087.1:n.4374+9418G>C (MTOR)
NM_021146.4:c.261C>G (ANGPTL7) MANE Select	NP_066969.1:p.Asn87Lys
NM_004958.4:c.4253+9418G>C (MTOR) MANE Select	NP_004949.1:n.4253+9418G>C
NM_001386500.1:c.4253+9418G>C (MTOR)	NP_001373429.1:n.4253+9418G>C
NM_001386501.1:c.3005+9418G>C (MTOR)	NP_001373430.1:n.3005+9418G>C