Canonical Allele Identifier: CA284259999

Gene: BCO1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81259602A>G , CM000678.2:g.81259602A>G	GRCh38
NC_000016.9:g.81293207A>G , CM000678.1:g.81293207A>G	GRCh37
NC_000016.8:g.79850708A>G	NCBI36
NG_012171.1:g.25912A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_017429.3:c.194-74A>G MANE Select	NP_059125.2:n.194-74A>G
ENST00000258168.7:c.194-74A>G MANE Select	ENSP00000258168.2:n.194-74A>G
NM_017429.2:c.194-74A>G	NP_059125.2:n.194-74A>G
ENST00000258168.6:c.194-74A>G	ENSP00000258168.2:n.194-74A>G
ENST00000563804.5:c.194-2534A>G	ENSP00000457910.1:n.194-2534A>G
ENST00000564552.1:c.194-74A>G	ENSP00000455219.1:n.194-74A>G
XM_011523109.1:c.194-74A>G	XP_011521411.1:n.194-74A>G
XM_011523109.2:c.194-74A>G	XP_011521411.1:n.194-74A>G
XM_017023286.2:c.194-74A>G	XP_016878775.1:n.194-74A>G
XM_017023287.2:c.194-74A>G	XP_016878776.1:n.194-74A>G
XM_017023288.2:c.194-74A>G	XP_016878777.1:n.194-74A>G
XR_002957813.1:n.655-74A>G