Canonical Allele Identifier: CA4665397

Gene: BMP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22211614G>A , CM000670.2:g.22211614G>A	GRCh38
NC_000008.10:g.22069127G>A , CM000670.1:g.22069127G>A	GRCh37
NC_000008.9:g.22125072G>A	NCBI36
NG_029659.1:g.51475G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006129.5:c.2847G>A MANE Select	NP_006120.1:p.Ser949=
ENST00000306385.10:c.2847G>A MANE Select	ENSP00000305714.5:p.Ser949=
NM_006129.4:c.2847G>A	NP_006120.1:p.Ser949=
NR_033403.1:n.3150G>A
NR_033403.2:n.2918G>A
ENST00000306385.9:c.2847G>A	ENSP00000305714.5:p.Ser949=
ENST00000354870.5:c.*2104G>A	ENSP00000346941.5:n.*2104G>A
ENST00000520626.5:c.*3379G>A	ENSP00000430015.1:n.*3379G>A
ENST00000520626.6:c.*3379G>A	ENSP00000430015.2:n.*3379G>A
ENST00000520970.5:c.*1211G>A	ENSP00000428332.1:n.*1211G>A
ENST00000520982.5:c.*2314G>A	ENSP00000428798.1:n.*2314G>A
XR_001745579.2:n.3740G>A
XR_949458.1:n.3220G>A
XR_949458.2:n.3162G>A