Canonical Allele Identifier: CA4665247

Gene: BMP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22207378G>A , CM000670.2:g.22207378G>A	GRCh38
NC_000008.10:g.22064891G>A , CM000670.1:g.22064891G>A	GRCh37
NC_000008.9:g.22120836G>A	NCBI36
NG_029659.1:g.47239G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006129.5:c.2437G>A MANE Select	NP_006120.1:p.Ala813Thr
ENST00000306385.10:c.2437G>A MANE Select	ENSP00000305714.5:p.Ala813Thr
NM_006129.4:c.2437G>A	NP_006120.1:p.Ala813Thr
NR_033403.1:n.2740G>A
NR_033403.2:n.2508G>A
ENST00000306385.9:c.2437G>A	ENSP00000305714.5:p.Ala813Thr
ENST00000354870.5:c.*1694G>A	ENSP00000346941.5:n.*1694G>A
ENST00000520626.5:c.*2969G>A	ENSP00000430015.1:n.*2969G>A
ENST00000520626.6:c.*2969G>A	ENSP00000430015.2:n.*2969G>A
ENST00000520970.5:c.*801G>A	ENSP00000428332.1:n.*801G>A
ENST00000520982.5:c.*1904G>A	ENSP00000428798.1:n.*1904G>A
XR_001745579.2:n.3330G>A
XR_949458.1:n.2810G>A
XR_949458.2:n.2752G>A