Canonical Allele Identifier: CA832041908

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.116681748A>T , CM000669.2:g.116681748A>T GRCh38
NC_000007.13:g.116321802A>T , CM000669.1:g.116321802A>T GRCh37
NC_000007.12:g.116109038A>T NCBI36
NG_008996.1:g.14344A>T , LRG_662:g.14344A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000422097.2:c.-15+9171A>T (MET) ENSP00000398776.2:n.-15+9171A>T
ENST00000436117.3:c.-15+9171A>T (MET) ENSP00000410980.2:n.-15+9171A>T
ENST00000318493.11:c.-15+9171A>T (MET) ENSP00000317272.6:n.-15+9171A>T
ENST00000397752.8:c.-15+9171A>T (MET) MANE Select ENSP00000380860.3:n.-15+9171A>T
ENST00000318493.10:c.-15+9171A>T (MET) ENSP00000317272.6:n.-15+9171A>T
ENST00000397752.7:c.-15+9171A>T (MET) ENSP00000380860.3:n.-15+9171A>T
ENST00000456159.1:c.-8+9171A>T (MET) ENSP00000413857.1:n.-8+9171A>T
NM_000245.2:c.-15+9171A>T (MET) NP_000236.2:n.-15+9171A>T
NM_001127500.1:c.-15+9171A>T , LRG_662t1:c.-15+9171A>T (MET) NP_001120972.1:n.-15+9171A>T
XM_006715991.2:c.-91+9171A>T (MET) XP_006716054.1:n.-91+9171A>T
XM_011516223.1:c.-8+9171A>T (MET) XP_011514525.1:n.-8+9171A>T
NM_000245.3:c.-15+9171A>T (MET) NP_000236.2:n.-15+9171A>T
NM_001127500.2:c.-15+9171A>T (MET) NP_001120972.1:n.-15+9171A>T
NM_001324401.1:c.-15+9171A>T (MET) NP_001311330.1:n.-15+9171A>T
NM_001324402.1:c.-91+9171A>T (MET) NP_001311331.1:n.-91+9171A>T
XR_001744772.1:n.167+9171A>T (MET)
NM_001127500.3:c.-15+9171A>T (MET) NP_001120972.1:n.-15+9171A>T
NM_000245.4:c.-15+9171A>T (MET) MANE Select NP_000236.2:n.-15+9171A>T
NM_001324401.2:c.-15+9171A>T (MET) NP_001311330.1:n.-15+9171A>T
NM_001324402.2:c.-91+9171A>T (MET) NP_001311331.1:n.-91+9171A>T
NR_165032.1:n.87+6193T>A (COMETT)
NR_165033.1:n.87+6193T>A (COMETT)
NM_001324401.3:c.-15+9171A>T (MET) NP_001311330.1:n.-15+9171A>T