Canonical Allele Identifier: CA2686448196

Gene: BMP1

Linked Data

• gnomAD v4: 8-22201455-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22201455C>A , CM000670.2:g.22201455C>A	GRCh38
NC_000008.10:g.22058968C>A , CM000670.1:g.22058968C>A	GRCh37
NC_000008.9:g.22114913C>A	NCBI36
NG_029659.1:g.41316C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306349.13:c.*252C>A MANE Plus Clinical	ENSP00000306121.8:n.*252C>A
ENST00000306385.10:c.2108-348C>A MANE Select	ENSP00000305714.5:n.2108-348C>A
ENST00000520626.6:c.*2292C>A	ENSP00000430015.2:n.*2292C>A
ENST00000306349.12:c.*252C>A	ENSP00000306121.8:n.*252C>A
ENST00000306385.9:c.2108-348C>A	ENSP00000305714.5:n.2108-348C>A
ENST00000354870.5:c.*1365-348C>A	ENSP00000346941.5:n.*1365-348C>A
ENST00000518913.5:c.*1912C>A	ENSP00000427950.1:n.*1912C>A
ENST00000520626.5:c.*2292C>A	ENSP00000430015.1:n.*2292C>A
ENST00000520970.5:c.*252C>A	ENSP00000428332.1:n.*252C>A
ENST00000520982.5:c.*1575-348C>A	ENSP00000428798.1:n.*1575-348C>A
ENST00000522332.1:n.1310C>A
NM_001199.3:c.*252C>A	NP_001190.1:n.*252C>A
NM_006129.4:c.2108-348C>A	NP_006120.1:n.2108-348C>A
NR_033403.1:n.2411-348C>A
NR_033404.1:n.2748C>A
XR_949458.1:n.2481-348C>A
XR_001745579.2:n.2653C>A
XR_949458.2:n.2423-348C>A
NM_006129.5:c.2108-348C>A MANE Select	NP_006120.1:n.2108-348C>A
NM_001199.4:c.*252C>A MANE Plus Clinical	NP_001190.1:n.*252C>A
NR_033403.2:n.2179-348C>A
NR_033404.2:n.2516C>A