Canonical Allele Identifier: CA4664858

Gene: BMP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22196718A>G , CM000670.2:g.22196718A>G	GRCh38
NC_000008.10:g.22054231A>G , CM000670.1:g.22054231A>G	GRCh37
NC_000008.9:g.22110176A>G	NCBI36
NG_029659.1:g.36579A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006129.5:c.1804A>G MANE Select	NP_006120.1:p.Ile602Val
ENST00000306385.10:c.1804A>G MANE Select	ENSP00000305714.5:p.Ile602Val
NM_001199.4:c.1804A>G MANE Plus Clinical	NP_001190.1:p.Ile602Val
ENST00000306349.13:c.1804A>G MANE Plus Clinical	ENSP00000306121.8:p.Ile602Val
NM_001199.3:c.1804A>G	NP_001190.1:p.Ile602Val
NM_006129.4:c.1804A>G	NP_006120.1:p.Ile602Val
NR_033403.1:n.2107A>G
NR_033403.2:n.1875A>G
NR_033404.1:n.2107A>G
NR_033404.2:n.1875A>G
ENST00000306349.12:c.1804A>G	ENSP00000306121.8:p.Ile602Val
ENST00000306385.9:c.1804A>G	ENSP00000305714.5:p.Ile602Val
ENST00000354870.5:c.*1061A>G	ENSP00000346941.5:n.*1061A>G
ENST00000471755.5:c.*434A>G	ENSP00000428665.1:n.*434A>G
ENST00000483364.5:c.*1061A>G	ENSP00000428249.1:n.*1061A>G
ENST00000518913.5:c.*1271A>G	ENSP00000427950.1:n.*1271A>G
ENST00000520626.5:c.*1651A>G	ENSP00000430015.1:n.*1651A>G
ENST00000520626.6:c.*1651A>G	ENSP00000430015.2:n.*1651A>G
ENST00000520970.5:c.1804A>G	ENSP00000428332.1:p.Ile602Val
ENST00000520982.5:c.*1271A>G	ENSP00000428798.1:n.*1271A>G
ENST00000521385.5:c.1804A>G	ENSP00000430406.1:p.Ile602Val
XM_006716386.2:c.1804A>G	XP_006716449.2:p.Ile602Val
XM_006716386.3:c.1804A>G	XP_006716449.2:p.Ile602Val
XM_017013738.2:c.1804A>G	XP_016869227.1:p.Ile602Val
XR_001745579.2:n.2012A>G
XR_428315.2:n.2070A>G
XR_949458.1:n.2070A>G
XR_949458.2:n.2012A>G