Canonical Allele Identifier: CA169554

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 142843
• ClinVar RCV Id: RCV000132281 ; RCV000412020 ; RCV001358779 ; RCV001588990
• dbSNP Id: rs587782760
• gnomAD v2: 10-88676888-A-C
• gnomAD v3: 10-86917131-A-C
• gnomAD v4: 10-86917131-A-C
• MyVariant Identifiers: chr10:g.88676888A>C (hg19) ; chr10:g.86917131A>C (hg38)
• PubMed: PMID:26270727

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86917131A>C , CM000672.2:g.86917131A>C	GRCh38
NC_000010.10:g.88676888A>C , CM000672.1:g.88676888A>C	GRCh37
NC_000010.9:g.88666868A>C	NCBI36
NG_009362.1:g.165493A>C , LRG_298:g.165493A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480152.3:c.676-3A>C	ENSP00000483569.2:n.676-3A>C
ENST00000635816.2:c.676-3A>C	ENSP00000489707.1:n.676-3A>C
ENST00000636056.2:c.676-3A>C	ENSP00000490273.1:n.676-3A>C
ENST00000372037.8:c.676-3A>C MANE Select	ENSP00000361107.2:n.676-3A>C
ENST00000635816.1:c.676-3A>C	ENSP00000489707.1:n.676-3A>C
ENST00000636056.1:c.676-3A>C	ENSP00000490273.1:n.676-3A>C
ENST00000638429.1:c.676-3A>C	ENSP00000492290.1:n.676-3A>C
ENST00000372037.7:c.676-3A>C	ENSP00000361107.1:n.676-3A>C
NM_004329.2:c.676-3A>C , LRG_298t1:c.676-3A>C	NP_004320.2:n.676-3A>C
XM_011540103.1:c.676-3A>C	XP_011538405.1:n.676-3A>C
XM_011540104.1:c.676-3A>C	XP_011538406.1:n.676-3A>C
XM_011540103.2:c.676-3A>C	XP_011538405.1:n.676-3A>C
XM_011540104.2:c.676-3A>C	XP_011538406.1:n.676-3A>C
NM_004329.3:c.676-3A>C MANE Select	NP_004320.2:n.676-3A>C