Canonical Allele Identifier: CA396876793

Gene: BCO1

Linked Data

• MyVariant Identifiers: chr16:g.81314498T>A (hg19) ; chr16:g.81280893T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81280893T>A , CM000678.2:g.81280893T>A	GRCh38
NC_000016.9:g.81314498T>A , CM000678.1:g.81314498T>A	GRCh37
NC_000016.8:g.79871999T>A	NCBI36
NG_012171.1:g.47203T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258168.7:c.1138T>A MANE Select	ENSP00000258168.2:p.Ser380Thr
ENST00000258168.6:c.1138T>A	ENSP00000258168.2:p.Ser380Thr
ENST00000563804.5:c.*762T>A	ENSP00000457910.1:n.*762T>A
NM_017429.2:c.1138T>A	NP_059125.2:p.Ser380Thr
XM_011523109.1:c.1102-6402T>A	XP_011521411.1:n.1102-6402T>A
XM_011523110.1:c.589T>A	XP_011521412.1:p.Ser197Thr
XM_011523109.2:c.1102-6402T>A	XP_011521411.1:n.1102-6402T>A
XM_017023286.2:c.1138T>A	XP_016878775.1:p.Ser380Thr
XM_017023287.2:c.1138T>A	XP_016878776.1:p.Ser380Thr
XM_017023288.2:c.1138T>A	XP_016878777.1:p.Ser380Thr
XM_017023289.1:c.361T>A	XP_016878778.1:p.Ser121Thr
XR_002957813.1:n.1465T>A
NM_017429.3:c.1138T>A MANE Select	NP_059125.2:p.Ser380Thr