Canonical Allele Identifier: CA8190858

Gene: BCO1

Linked Data

• dbSNP Id: rs775962662
• ExAC: 16:81301589 C / T
• gnomAD v2: 16-81301589-C-T
• gnomAD v4: 16-81267984-C-T
• MyVariant Identifiers: chr16:g.81301589C>T (hg19) ; chr16:g.81267984C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81267984C>T , CM000678.2:g.81267984C>T	GRCh38
NC_000016.9:g.81301589C>T , CM000678.1:g.81301589C>T	GRCh37
NC_000016.8:g.79859090C>T	NCBI36
NG_012171.1:g.34294C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258168.7:c.696C>T MANE Select	ENSP00000258168.2:p.Ser232=
ENST00000258168.6:c.696C>T	ENSP00000258168.2:p.Ser232=
ENST00000563804.5:c.*320C>T	ENSP00000457910.1:n.*320C>T
NM_017429.2:c.696C>T	NP_059125.2:p.Ser232=
XM_011523109.1:c.696C>T	XP_011521411.1:p.Ser232=
XM_011523110.1:c.147C>T	XP_011521412.1:p.Ser49=
XM_011523109.2:c.696C>T	XP_011521411.1:p.Ser232=
XM_017023286.2:c.696C>T	XP_016878775.1:p.Ser232=
XM_017023287.2:c.696C>T	XP_016878776.1:p.Ser232=
XM_017023288.2:c.696C>T	XP_016878777.1:p.Ser232=
XM_017023289.1:c.-24-58C>T	XP_016878778.1:n.-24-58C>T
XR_002957813.1:n.1081-58C>T
NM_017429.3:c.696C>T MANE Select	NP_059125.2:p.Ser232=