Canonical Allele Identifier: CA8190742

Gene: BCO1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81262297T>C , CM000678.2:g.81262297T>C	GRCh38
NC_000016.9:g.81295902T>C , CM000678.1:g.81295902T>C	GRCh37
NC_000016.8:g.79853403T>C	NCBI36
NG_012171.1:g.28607T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_017429.3:c.471+14T>C MANE Select	NP_059125.2:n.471+14T>C
ENST00000258168.7:c.471+14T>C MANE Select	ENSP00000258168.2:n.471+14T>C
NM_017429.2:c.471+14T>C	NP_059125.2:n.471+14T>C
ENST00000258168.6:c.471+14T>C	ENSP00000258168.2:n.471+14T>C
ENST00000563804.5:c.*95+14T>C	ENSP00000457910.1:n.*95+14T>C
ENST00000564552.1:c.485T>C	ENSP00000455219.1:p.Met162Thr
XM_011523109.1:c.471+14T>C	XP_011521411.1:n.471+14T>C
XM_011523109.2:c.471+14T>C	XP_011521411.1:n.471+14T>C
XM_011523110.1:c.-131T>C	XP_011521412.1:n.-131T>C
XM_017023286.2:c.471+14T>C	XP_016878775.1:n.471+14T>C
XM_017023287.2:c.471+14T>C	XP_016878776.1:n.471+14T>C
XM_017023288.2:c.471+14T>C	XP_016878777.1:n.471+14T>C
XR_002957813.1:n.932+14T>C