Canonical Allele Identifier: CA8191006

Gene: BCO1

Linked Data

• dbSNP Id: rs201705631
• ExAC: 16:81314422 C / T
• gnomAD v2: 16-81314422-C-T
• gnomAD v3: 16-81280817-C-T
• gnomAD v4: 16-81280817-C-T
• MyVariant Identifiers: chr16:g.81314422C>T (hg19) ; chr16:g.81280817C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81280817C>T , CM000678.2:g.81280817C>T	GRCh38
NC_000016.9:g.81314422C>T , CM000678.1:g.81314422C>T	GRCh37
NC_000016.8:g.79871923C>T	NCBI36
NG_012171.1:g.47127C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258168.7:c.1102-40C>T MANE Select	ENSP00000258168.2:n.1102-40C>T
ENST00000258168.6:c.1102-40C>T	ENSP00000258168.2:n.1102-40C>T
ENST00000563804.5:c.*726-40C>T	ENSP00000457910.1:n.*726-40C>T
NM_017429.2:c.1102-40C>T	NP_059125.2:n.1102-40C>T
XM_011523109.1:c.1102-6478C>T	XP_011521411.1:n.1102-6478C>T
XM_011523110.1:c.553-40C>T	XP_011521412.1:n.553-40C>T
XM_011523109.2:c.1102-6478C>T	XP_011521411.1:n.1102-6478C>T
XM_017023286.2:c.1102-40C>T	XP_016878775.1:n.1102-40C>T
XM_017023287.2:c.1102-40C>T	XP_016878776.1:n.1102-40C>T
XM_017023288.2:c.1102-40C>T	XP_016878777.1:n.1102-40C>T
XM_017023289.1:c.325-40C>T	XP_016878778.1:n.325-40C>T
XR_002957813.1:n.1429-40C>T
NM_017429.3:c.1102-40C>T MANE Select	NP_059125.2:n.1102-40C>T