Canonical Allele Identifier: CA4665346

Gene: BMP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22209599G>A , CM000670.2:g.22209599G>A	GRCh38
NC_000008.10:g.22067112G>A , CM000670.1:g.22067112G>A	GRCh37
NC_000008.9:g.22123057G>A	NCBI36
NG_029659.1:g.49460G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006129.5:c.2730G>A MANE Select	NP_006120.1:p.Glu910=
ENST00000306385.10:c.2730G>A MANE Select	ENSP00000305714.5:p.Glu910=
NM_006129.4:c.2730G>A	NP_006120.1:p.Glu910=
NR_033403.1:n.3033G>A
NR_033403.2:n.2801G>A
ENST00000306385.9:c.2730G>A	ENSP00000305714.5:p.Glu910=
ENST00000354870.5:c.*1987G>A	ENSP00000346941.5:n.*1987G>A
ENST00000520626.5:c.*3262G>A	ENSP00000430015.1:n.*3262G>A
ENST00000520626.6:c.*3262G>A	ENSP00000430015.2:n.*3262G>A
ENST00000520970.5:c.*1094G>A	ENSP00000428332.1:n.*1094G>A
ENST00000520982.5:c.*2197G>A	ENSP00000428798.1:n.*2197G>A
XR_001745579.2:n.3623G>A
XR_949458.1:n.3103G>A
XR_949458.2:n.3045G>A