Canonical Allele Identifier: CA14253637

Gene: BCO1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81267855G>C , CM000678.2:g.81267855G>C	GRCh38
NC_000016.9:g.81301460G>C , CM000678.1:g.81301460G>C	GRCh37
NC_000016.8:g.79858961G>C	NCBI36
NG_012171.1:g.34165G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_017429.3:c.620-53G>C MANE Select	NP_059125.2:n.620-53G>C
ENST00000258168.7:c.620-53G>C MANE Select	ENSP00000258168.2:n.620-53G>C
NM_017429.2:c.620-53G>C	NP_059125.2:n.620-53G>C
ENST00000258168.6:c.620-53G>C	ENSP00000258168.2:n.620-53G>C
ENST00000563804.5:c.*244-53G>C	ENSP00000457910.1:n.*244-53G>C
XM_011523109.1:c.620-53G>C	XP_011521411.1:n.620-53G>C
XM_011523109.2:c.620-53G>C	XP_011521411.1:n.620-53G>C
XM_011523110.1:c.71-53G>C	XP_011521412.1:n.71-53G>C
XM_017023286.2:c.620-53G>C	XP_016878775.1:n.620-53G>C
XM_017023287.2:c.620-53G>C	XP_016878776.1:n.620-53G>C
XM_017023288.2:c.620-53G>C	XP_016878777.1:n.620-53G>C
XM_017023289.1:c.-24-187G>C	XP_016878778.1:n.-24-187G>C
XR_002957813.1:n.1081-187G>C