Canonical Allele Identifier: CA4665133

Gene: BMP1

Linked Data

• ClinVar Variation Id: 498501
• ClinVar RCV Id: RCV000597608 ; RCV001162110
• dbSNP Id: rs117159093
• ExAC: 8:22059342 G / A
• gnomAD v2: 8-22059342-G-A
• gnomAD v3: 8-22201829-G-A
• gnomAD v4: 8-22201829-G-A
• MyVariant Identifiers: chr8:g.22059342G>A (hg19) ; chr8:g.22201829G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22201829G>A , CM000670.2:g.22201829G>A	GRCh38
NC_000008.10:g.22059342G>A , CM000670.1:g.22059342G>A	GRCh37
NC_000008.9:g.22115287G>A	NCBI36
NG_029659.1:g.41690G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306385.10:c.2134G>A MANE Select	ENSP00000305714.5:p.Gly712Ser
ENST00000520626.6:c.*2666G>A	ENSP00000430015.2:n.*2666G>A
ENST00000306385.9:c.2134G>A	ENSP00000305714.5:p.Gly712Ser
ENST00000354870.5:c.*1391G>A	ENSP00000346941.5:n.*1391G>A
ENST00000520626.5:c.*2666G>A	ENSP00000430015.1:n.*2666G>A
ENST00000520970.5:c.*626G>A	ENSP00000428332.1:n.*626G>A
ENST00000520982.5:c.*1601G>A	ENSP00000428798.1:n.*1601G>A
NM_006129.4:c.2134G>A	NP_006120.1:p.Gly712Ser
NR_033403.1:n.2437G>A
XR_949458.1:n.2507G>A
XR_001745579.2:n.3027G>A
XR_949458.2:n.2449G>A
NM_006129.5:c.2134G>A MANE Select	NP_006120.1:p.Gly712Ser
NR_033403.2:n.2205G>A