Canonical Allele Identifier: CA396872165

Gene: BCO1

Linked Data

• MyVariant Identifiers: chr16:g.81301596T>C (hg19) ; chr16:g.81267991T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81267991T>C , CM000678.2:g.81267991T>C	GRCh38
NC_000016.9:g.81301596T>C , CM000678.1:g.81301596T>C	GRCh37
NC_000016.8:g.79859097T>C	NCBI36
NG_012171.1:g.34301T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258168.7:c.703T>C MANE Select	ENSP00000258168.2:p.Tyr235His
ENST00000258168.6:c.703T>C	ENSP00000258168.2:p.Tyr235His
ENST00000563804.5:c.*327T>C	ENSP00000457910.1:n.*327T>C
NM_017429.2:c.703T>C	NP_059125.2:p.Tyr235His
XM_011523109.1:c.703T>C	XP_011521411.1:p.Tyr235His
XM_011523110.1:c.154T>C	XP_011521412.1:p.Tyr52His
XM_011523109.2:c.703T>C	XP_011521411.1:p.Tyr235His
XM_017023286.2:c.703T>C	XP_016878775.1:p.Tyr235His
XM_017023287.2:c.703T>C	XP_016878776.1:p.Tyr235His
XM_017023288.2:c.703T>C	XP_016878777.1:p.Tyr235His
XM_017023289.1:c.-24-51T>C	XP_016878778.1:n.-24-51T>C
XR_002957813.1:n.1081-51T>C
NM_017429.3:c.703T>C MANE Select	NP_059125.2:p.Tyr235His