Canonical Allele Identifier: CA338380222
Gene: MTOR HGNC NCBI
ANGPTL7 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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