Canonical Allele Identifier: CA1925728587

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 2163576
• ClinVar RCV Id: RCV003073361
• dbSNP Id: rs1163768825
• gnomAD v4: 10-86923586-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86923586C>A , CM000672.2:g.86923586C>A	GRCh38
NC_000010.10:g.88683343C>A , CM000672.1:g.88683343C>A	GRCh37
NC_000010.9:g.88673323C>A	NCBI36
NG_009362.1:g.171948C>A , LRG_298:g.171948C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000480152.3:c.1474-8C>A	ENSP00000483569.2:n.1474-8C>A
ENST00000635816.2:c.1474-8C>A	ENSP00000489707.1:n.1474-8C>A
ENST00000636056.2:c.1474-8C>A	ENSP00000490273.1:n.1474-8C>A
ENST00000372037.8:c.1474-8C>A MANE Select	ENSP00000361107.2:n.1474-8C>A
ENST00000635816.1:c.1474-8C>A	ENSP00000489707.1:n.1474-8C>A
ENST00000636056.1:c.1474-8C>A	ENSP00000490273.1:n.1474-8C>A
ENST00000638429.1:c.1474-8C>A	ENSP00000492290.1:n.1474-8C>A
ENST00000372037.7:c.1474-8C>A	ENSP00000361107.1:n.1474-8C>A
NM_004329.2:c.1474-8C>A , LRG_298t1:c.1474-8C>A	NP_004320.2:n.1474-8C>A
XM_011540103.1:c.1474-8C>A	XP_011538405.1:n.1474-8C>A
XM_011540104.1:c.1474-8C>A	XP_011538406.1:n.1474-8C>A
XM_011540103.2:c.1474-8C>A	XP_011538405.1:n.1474-8C>A
XM_011540104.2:c.1474-8C>A	XP_011538406.1:n.1474-8C>A
NM_004329.3:c.1474-8C>A MANE Select	NP_004320.2:n.1474-8C>A