Canonical Allele Identifier: CA396872316

Gene: BCO1

Linked Data

• MyVariant Identifiers: chr16:g.81301606G>T (hg19) ; chr16:g.81268001G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81268001G>T , CM000678.2:g.81268001G>T	GRCh38
NC_000016.9:g.81301606G>T , CM000678.1:g.81301606G>T	GRCh37
NC_000016.8:g.79859107G>T	NCBI36
NG_012171.1:g.34311G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258168.7:c.713G>T MANE Select	ENSP00000258168.2:p.Ser238Ile
ENST00000258168.6:c.713G>T	ENSP00000258168.2:p.Ser238Ile
ENST00000563804.5:c.*337G>T	ENSP00000457910.1:n.*337G>T
NM_017429.2:c.713G>T	NP_059125.2:p.Ser238Ile
XM_011523109.1:c.713G>T	XP_011521411.1:p.Ser238Ile
XM_011523110.1:c.164G>T	XP_011521412.1:p.Ser55Ile
XM_011523109.2:c.713G>T	XP_011521411.1:p.Ser238Ile
XM_017023286.2:c.713G>T	XP_016878775.1:p.Ser238Ile
XM_017023287.2:c.713G>T	XP_016878776.1:p.Ser238Ile
XM_017023288.2:c.713G>T	XP_016878777.1:p.Ser238Ile
XM_017023289.1:c.-24-41G>T	XP_016878778.1:n.-24-41G>T
XR_002957813.1:n.1081-41G>T
NM_017429.3:c.713G>T MANE Select	NP_059125.2:p.Ser238Ile