Canonical Allele Identifier: CA8191020
Gene: BCO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1253021
ClinVar RCV Id: RCV001662898
dbSNP Id: rs7501331

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81280891C>T , CM000678.2:g.81280891C>T GRCh38
NC_000016.9:g.81314496C>T , CM000678.1:g.81314496C>T GRCh37
NC_000016.8:g.79871997C>T NCBI36
NG_012171.1:g.47201C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000258168.7:c.1136C>T MANE Select ENSP00000258168.2:p.Ala379Val
ENST00000258168.6:c.1136C>T ENSP00000258168.2:p.Ala379Val
ENST00000563804.5:c.*760C>T ENSP00000457910.1:p.=
NM_017429.2:c.1136C>T NP_059125.2:p.Ala379Val
XM_011523109.1:c.1102-6404C>T XP_011521411.1:p.=
XM_011523110.1:c.587C>T XP_011521412.1:p.Ala196Val
XM_011523109.2:c.1102-6404C>T XP_011521411.1:p.=
XM_017023286.2:c.1136C>T XP_016878775.1:p.Ala379Val
XM_017023287.2:c.1136C>T XP_016878776.1:p.Ala379Val
XM_017023288.2:c.1136C>T XP_016878777.1:p.Ala379Val
XM_017023289.1:c.359C>T XP_016878778.1:p.Ala120Val
XR_002957813.1:n.1463C>T
NM_017429.3:c.1136C>T MANE Select NP_059125.2:p.Ala379Val