Canonical Allele Identifier: CA157462

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 41782
• ClinVar RCV Id: RCV000034703 ; RCV000120253 ; RCV000131909 ; RCV001079825
• dbSNP Id: rs11528010
• ExAC: 10:88635779 C / A
• gnomAD v2: 10-88635779-C-A
• gnomAD v3: 10-86876022-C-A
• gnomAD v4: 10-86876022-C-A
• MyVariant Identifiers: chr10:g.88635779C>A (hg19) ; chr10:g.86876022C>A (hg38)
• PubMed: PMID:22703879 ; PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86876022C>A , CM000672.2:g.86876022C>A	GRCh38
NC_000010.10:g.88635779C>A , CM000672.1:g.88635779C>A	GRCh37
NC_000010.9:g.88625759C>A	NCBI36
NG_009362.1:g.124384C>A , LRG_298:g.124384C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000480152.3:c.4C>A	ENSP00000483569.2:p.Pro2Thr
ENST00000635816.2:c.4C>A	ENSP00000489707.1:p.Pro2Thr
ENST00000636056.2:c.4C>A	ENSP00000490273.1:p.Pro2Thr
ENST00000372037.8:c.4C>A MANE Select	ENSP00000361107.2:p.Pro2Thr
ENST00000635816.1:c.4C>A	ENSP00000489707.1:p.Pro2Thr
ENST00000636056.1:c.4C>A	ENSP00000490273.1:p.Pro2Thr
ENST00000638429.1:c.4C>A	ENSP00000492290.1:p.Pro2Thr
ENST00000372037.7:c.4C>A	ENSP00000361107.1:p.Pro2Thr
ENST00000480152.2:c.4C>A	ENSP00000483569.1:p.Pro2Thr
NM_004329.2:c.4C>A , LRG_298t1:c.4C>A	NP_004320.2:p.Pro2Thr
XM_011540103.1:c.4C>A	XP_011538405.1:p.Pro2Thr
XM_011540104.1:c.4C>A	XP_011538406.1:p.Pro2Thr
XM_011540103.2:c.4C>A	XP_011538405.1:p.Pro2Thr
XM_011540104.2:c.4C>A	XP_011538406.1:p.Pro2Thr
NM_004329.3:c.4C>A MANE Select	NP_004320.2:p.Pro2Thr