Canonical Allele Identifier: CA396876808

Gene: BCO1

Linked Data

• gnomAD v4: 16-81280903-C-A
• MyVariant Identifiers: chr16:g.81314508C>A (hg19) ; chr16:g.81280903C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81280903C>A , CM000678.2:g.81280903C>A	GRCh38
NC_000016.9:g.81314508C>A , CM000678.1:g.81314508C>A	GRCh37
NC_000016.8:g.79872009C>A	NCBI36
NG_012171.1:g.47213C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258168.7:c.1148C>A MANE Select	ENSP00000258168.2:p.Ala383Asp
ENST00000258168.6:c.1148C>A	ENSP00000258168.2:p.Ala383Asp
ENST00000563804.5:c.*772C>A	ENSP00000457910.1:n.*772C>A
NM_017429.2:c.1148C>A	NP_059125.2:p.Ala383Asp
XM_011523109.1:c.1102-6392C>A	XP_011521411.1:n.1102-6392C>A
XM_011523110.1:c.599C>A	XP_011521412.1:p.Ala200Asp
XM_011523109.2:c.1102-6392C>A	XP_011521411.1:n.1102-6392C>A
XM_017023286.2:c.1148C>A	XP_016878775.1:p.Ala383Asp
XM_017023287.2:c.1148C>A	XP_016878776.1:p.Ala383Asp
XM_017023288.2:c.1148C>A	XP_016878777.1:p.Ala383Asp
XM_017023289.1:c.371C>A	XP_016878778.1:p.Ala124Asp
XR_002957813.1:n.1475C>A
NM_017429.3:c.1148C>A MANE Select	NP_059125.2:p.Ala383Asp