Canonical Allele Identifier: CA10578901

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 232333
• ClinVar RCV Id: RCV000220696 ; RCV000936216 ; RCV001290627
• dbSNP Id: rs876659703
• gnomAD v2: 10-88683446-G-A
• gnomAD v3: 10-86923689-G-A
• gnomAD v4: 10-86923689-G-A
• MyVariant Identifiers: chr10:g.88683446G>A (hg19) ; chr10:g.86923689G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86923689G>A , CM000672.2:g.86923689G>A	GRCh38
NC_000010.10:g.88683446G>A , CM000672.1:g.88683446G>A	GRCh37
NC_000010.9:g.88673426G>A	NCBI36
NG_009362.1:g.172051G>A , LRG_298:g.172051G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000480152.3:c.1569G>A	ENSP00000483569.2:p.Lys523=
ENST00000635816.2:c.1569G>A	ENSP00000489707.1:p.Lys523=
ENST00000636056.2:c.1569G>A	ENSP00000490273.1:p.Lys523=
ENST00000372037.8:c.1569G>A MANE Select	ENSP00000361107.2:p.Lys523=
ENST00000635816.1:c.1569G>A	ENSP00000489707.1:p.Lys523=
ENST00000636056.1:c.1569G>A	ENSP00000490273.1:p.Lys523=
ENST00000638429.1:c.1569G>A	ENSP00000492290.1:p.Lys523=
ENST00000372037.7:c.1569G>A	ENSP00000361107.1:p.Lys523=
NM_004329.2:c.1569G>A , LRG_298t1:c.1569G>A	NP_004320.2:p.Lys523=
XM_011540103.1:c.1569G>A	XP_011538405.1:p.Lys523=
XM_011540104.1:c.1569G>A	XP_011538406.1:p.Lys523=
XM_011540103.2:c.1569G>A	XP_011538405.1:p.Lys523=
XM_011540104.2:c.1569G>A	XP_011538406.1:p.Lys523=
NM_004329.3:c.1569G>A MANE Select	NP_004320.2:p.Lys523=