Canonical Allele Identifier: CA334421

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 188242
• ClinVar RCV Id: RCV000168197 ; RCV000254949 ; RCV000493778 ; RCV001264537
• dbSNP Id: rs200951235
• ExAC: 10:88659852 A / G
• gnomAD v2: 10-88659852-A-G
• gnomAD v3: 10-86900095-A-G
• gnomAD v4: 10-86900095-A-G
• MyVariant Identifiers: chr10:g.88659852A>G (hg19) ; chr10:g.86900095A>G (hg38)
• PubMed: PMID:25980754 ; PMID:28135145

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86900095A>G , CM000672.2:g.86900095A>G	GRCh38
NC_000010.10:g.88659852A>G , CM000672.1:g.88659852A>G	GRCh37
NC_000010.9:g.88649832A>G	NCBI36
NG_009362.1:g.148457A>G , LRG_298:g.148457A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000480152.3:c.499A>G	ENSP00000483569.2:p.Met167Val
ENST00000635816.2:c.499A>G	ENSP00000489707.1:p.Met167Val
ENST00000636056.2:c.499A>G	ENSP00000490273.1:p.Met167Val
ENST00000372037.8:c.499A>G MANE Select	ENSP00000361107.2:p.Met167Val
ENST00000635816.1:c.499A>G	ENSP00000489707.1:p.Met167Val
ENST00000636056.1:c.499A>G	ENSP00000490273.1:p.Met167Val
ENST00000638429.1:c.499A>G	ENSP00000492290.1:p.Met167Val
ENST00000372037.7:c.499A>G	ENSP00000361107.1:p.Met167Val
NM_004329.2:c.499A>G , LRG_298t1:c.499A>G	NP_004320.2:p.Met167Val
XM_011540103.1:c.499A>G	XP_011538405.1:p.Met167Val
XM_011540104.1:c.499A>G	XP_011538406.1:p.Met167Val
XM_011540103.2:c.499A>G	XP_011538405.1:p.Met167Val
XM_011540104.2:c.499A>G	XP_011538406.1:p.Met167Val
NM_004329.3:c.499A>G MANE Select	NP_004320.2:p.Met167Val