Canonical Allele Identifier: CA396872144

Gene: BCO1

Linked Data

• gnomAD v4: 16-81267989-G-C
• MyVariant Identifiers: chr16:g.81301594G>C (hg19) ; chr16:g.81267989G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81267989G>C , CM000678.2:g.81267989G>C	GRCh38
NC_000016.9:g.81301594G>C , CM000678.1:g.81301594G>C	GRCh37
NC_000016.8:g.79859095G>C	NCBI36
NG_012171.1:g.34299G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258168.7:c.701G>C MANE Select	ENSP00000258168.2:p.Ser234Thr
ENST00000258168.6:c.701G>C	ENSP00000258168.2:p.Ser234Thr
ENST00000563804.5:c.*325G>C	ENSP00000457910.1:n.*325G>C
NM_017429.2:c.701G>C	NP_059125.2:p.Ser234Thr
XM_011523109.1:c.701G>C	XP_011521411.1:p.Ser234Thr
XM_011523110.1:c.152G>C	XP_011521412.1:p.Ser51Thr
XM_011523109.2:c.701G>C	XP_011521411.1:p.Ser234Thr
XM_017023286.2:c.701G>C	XP_016878775.1:p.Ser234Thr
XM_017023287.2:c.701G>C	XP_016878776.1:p.Ser234Thr
XM_017023288.2:c.701G>C	XP_016878777.1:p.Ser234Thr
XM_017023289.1:c.-24-53G>C	XP_016878778.1:n.-24-53G>C
XR_002957813.1:n.1081-53G>C
NM_017429.3:c.701G>C MANE Select	NP_059125.2:p.Ser234Thr