Canonical Allele Identifier: CA470307958

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 491014
• ClinVar RCV Id: RCV000581852 ; RCV001443164
• dbSNP Id: rs1554890747
• gnomAD v4: 10-86917169-C-A
• MyVariant Identifiers: chr10:g.88676926C>A (hg19) ; chr10:g.86917169C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86917169C>A , CM000672.2:g.86917169C>A	GRCh38
NC_000010.10:g.88676926C>A , CM000672.1:g.88676926C>A	GRCh37
NC_000010.9:g.88666906C>A	NCBI36
NG_009362.1:g.165531C>A , LRG_298:g.165531C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480152.3:c.711C>A	ENSP00000483569.2:p.Val237=
ENST00000635816.2:c.711C>A	ENSP00000489707.1:p.Val237=
ENST00000636056.2:c.711C>A	ENSP00000490273.1:p.Val237=
ENST00000372037.8:c.711C>A MANE Select	ENSP00000361107.2:p.Val237=
ENST00000635816.1:c.711C>A	ENSP00000489707.1:p.Val237=
ENST00000636056.1:c.711C>A	ENSP00000490273.1:p.Val237=
ENST00000638429.1:c.711C>A	ENSP00000492290.1:p.Val237=
ENST00000372037.7:c.711C>A	ENSP00000361107.1:p.Val237=
NM_004329.2:c.711C>A , LRG_298t1:c.711C>A	NP_004320.2:p.Val237=
XM_011540103.1:c.711C>A	XP_011538405.1:p.Val237=
XM_011540104.1:c.711C>A	XP_011538406.1:p.Val237=
XM_011540103.2:c.711C>A	XP_011538405.1:p.Val237=
XM_011540104.2:c.711C>A	XP_011538406.1:p.Val237=
NM_004329.3:c.711C>A MANE Select	NP_004320.2:p.Val237=