Canonical Allele Identifier: CA370541742

Gene: BMP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22176648C>A , CM000670.2:g.22176648C>A	GRCh38
NC_000008.10:g.22034161C>A , CM000670.1:g.22034161C>A	GRCh37
NC_000008.9:g.22090106C>A	NCBI36
NG_029659.1:g.16509C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006129.5:c.549C>A MANE Select	NP_006120.1:p.Cys183Ter
ENST00000306385.10:c.549C>A MANE Select	ENSP00000305714.5:p.Cys183Ter
NM_001199.4:c.549C>A MANE Plus Clinical	NP_001190.1:p.Cys183Ter
ENST00000306349.13:c.549C>A MANE Plus Clinical	ENSP00000306121.8:p.Cys183Ter
NM_001199.3:c.549C>A	NP_001190.1:p.Cys183Ter
NM_006129.4:c.549C>A	NP_006120.1:p.Cys183Ter
NR_033403.1:n.815C>A
NR_033403.2:n.583C>A
NR_033404.1:n.815C>A
NR_033404.2:n.583C>A
ENST00000306349.12:c.549C>A	ENSP00000306121.8:p.Cys183Ter
ENST00000306385.9:c.549C>A	ENSP00000305714.5:p.Cys183Ter
ENST00000354870.5:c.549C>A	ENSP00000346941.5:p.Cys183Ter
ENST00000397814.7:c.549C>A	ENSP00000380915.4:p.Cys183Ter
ENST00000471755.5:c.549C>A	ENSP00000428665.1:p.Cys183Ter
ENST00000483364.5:c.549C>A	ENSP00000428249.1:p.Cys183Ter
ENST00000518656.5:c.549C>A	ENSP00000430977.1:p.Cys183Ter
ENST00000518913.5:c.549C>A	ENSP00000427950.1:p.Cys183Ter
ENST00000520626.5:c.*359C>A	ENSP00000430015.1:n.*359C>A
ENST00000520626.6:c.*359C>A	ENSP00000430015.2:n.*359C>A
ENST00000520970.5:c.549C>A	ENSP00000428332.1:p.Cys183Ter
ENST00000520982.5:c.549C>A	ENSP00000428798.1:p.Cys183Ter
ENST00000521385.5:c.549C>A	ENSP00000430406.1:p.Cys183Ter
ENST00000523849.1:n.712C>A
XM_006716386.2:c.549C>A	XP_006716449.2:p.Cys183Ter
XM_006716386.3:c.549C>A	XP_006716449.2:p.Cys183Ter
XM_011544617.1:c.549C>A	XP_011542919.1:p.Cys183Ter
XM_011544617.2:c.549C>A	XP_011542919.1:p.Cys183Ter
XM_017013738.2:c.549C>A	XP_016869227.1:p.Cys183Ter
XR_001745579.2:n.757C>A
XR_428315.2:n.815C>A
XR_949458.1:n.815C>A
XR_949458.2:n.757C>A