Canonical Allele Identifier: CA4665138

Gene: BMP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22201850G>A , CM000670.2:g.22201850G>A	GRCh38
NC_000008.10:g.22059363G>A , CM000670.1:g.22059363G>A	GRCh37
NC_000008.9:g.22115308G>A	NCBI36
NG_029659.1:g.41711G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006129.5:c.2155G>A MANE Select	NP_006120.1:p.Val719Ile
ENST00000306385.10:c.2155G>A MANE Select	ENSP00000305714.5:p.Val719Ile
NM_006129.4:c.2155G>A	NP_006120.1:p.Val719Ile
NR_033403.1:n.2458G>A
NR_033403.2:n.2226G>A
ENST00000306385.9:c.2155G>A	ENSP00000305714.5:p.Val719Ile
ENST00000354870.5:c.*1412G>A	ENSP00000346941.5:n.*1412G>A
ENST00000520626.5:c.*2687G>A	ENSP00000430015.1:n.*2687G>A
ENST00000520626.6:c.*2687G>A	ENSP00000430015.2:n.*2687G>A
ENST00000520970.5:c.*647G>A	ENSP00000428332.1:n.*647G>A
ENST00000520982.5:c.*1622G>A	ENSP00000428798.1:n.*1622G>A
XR_001745579.2:n.3048G>A
XR_949458.1:n.2528G>A
XR_949458.2:n.2470G>A