Canonical Allele Identifier: CA396871988

Gene: BCO1

Linked Data

• gnomAD v4: 16-81267971-G-C
• MyVariant Identifiers: chr16:g.81301576G>C (hg19) ; chr16:g.81267971G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81267971G>C , CM000678.2:g.81267971G>C	GRCh38
NC_000016.9:g.81301576G>C , CM000678.1:g.81301576G>C	GRCh37
NC_000016.8:g.79859077G>C	NCBI36
NG_012171.1:g.34281G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258168.7:c.683G>C MANE Select	ENSP00000258168.2:p.Arg228Pro
ENST00000258168.6:c.683G>C	ENSP00000258168.2:p.Arg228Pro
ENST00000563804.5:c.*307G>C	ENSP00000457910.1:n.*307G>C
NM_017429.2:c.683G>C	NP_059125.2:p.Arg228Pro
XM_011523109.1:c.683G>C	XP_011521411.1:p.Arg228Pro
XM_011523110.1:c.134G>C	XP_011521412.1:p.Arg45Pro
XM_011523109.2:c.683G>C	XP_011521411.1:p.Arg228Pro
XM_017023286.2:c.683G>C	XP_016878775.1:p.Arg228Pro
XM_017023287.2:c.683G>C	XP_016878776.1:p.Arg228Pro
XM_017023288.2:c.683G>C	XP_016878777.1:p.Arg228Pro
XM_017023289.1:c.-24-71G>C	XP_016878778.1:n.-24-71G>C
XR_002957813.1:n.1081-71G>C
NM_017429.3:c.683G>C MANE Select	NP_059125.2:p.Arg228Pro