Canonical Allele Identifier: CA2686448194

Gene: BMP1

Linked Data

• gnomAD v4: 8-22201454-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22201454A>G , CM000670.2:g.22201454A>G	GRCh38
NC_000008.10:g.22058967A>G , CM000670.1:g.22058967A>G	GRCh37
NC_000008.9:g.22114912A>G	NCBI36
NG_029659.1:g.41315A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306349.13:c.*251A>G MANE Plus Clinical	ENSP00000306121.8:n.*251A>G
ENST00000306385.10:c.2108-349A>G MANE Select	ENSP00000305714.5:n.2108-349A>G
ENST00000520626.6:c.*2291A>G	ENSP00000430015.2:n.*2291A>G
ENST00000306349.12:c.*251A>G	ENSP00000306121.8:n.*251A>G
ENST00000306385.9:c.2108-349A>G	ENSP00000305714.5:n.2108-349A>G
ENST00000354870.5:c.*1365-349A>G	ENSP00000346941.5:n.*1365-349A>G
ENST00000518913.5:c.*1911A>G	ENSP00000427950.1:n.*1911A>G
ENST00000520626.5:c.*2291A>G	ENSP00000430015.1:n.*2291A>G
ENST00000520970.5:c.*251A>G	ENSP00000428332.1:n.*251A>G
ENST00000520982.5:c.*1575-349A>G	ENSP00000428798.1:n.*1575-349A>G
ENST00000522332.1:n.1309A>G
NM_001199.3:c.*251A>G	NP_001190.1:n.*251A>G
NM_006129.4:c.2108-349A>G	NP_006120.1:n.2108-349A>G
NR_033403.1:n.2411-349A>G
NR_033404.1:n.2747A>G
XR_949458.1:n.2481-349A>G
XR_001745579.2:n.2652A>G
XR_949458.2:n.2423-349A>G
NM_006129.5:c.2108-349A>G MANE Select	NP_006120.1:n.2108-349A>G
NM_001199.4:c.*251A>G MANE Plus Clinical	NP_001190.1:n.*251A>G
NR_033403.2:n.2179-349A>G
NR_033404.2:n.2515A>G