Canonical Allele Identifier: CA377449329

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 482865
• ClinVar RCV Id: RCV000570895 ; RCV001040546 ; RCV003476340
• dbSNP Id: rs1360094214
• gnomAD v4: 10-86899810-A-G
• MyVariant Identifiers: chr10:g.88659567A>G (hg19) ; chr10:g.86899810A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86899810A>G , CM000672.2:g.86899810A>G	GRCh38
NC_000010.10:g.88659567A>G , CM000672.1:g.88659567A>G	GRCh37
NC_000010.9:g.88649547A>G	NCBI36
NG_009362.1:g.148172A>G , LRG_298:g.148172A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480152.3:c.350A>G	ENSP00000483569.2:p.Gln117Arg
ENST00000635816.2:c.350A>G	ENSP00000489707.1:p.Gln117Arg
ENST00000636056.2:c.350A>G	ENSP00000490273.1:p.Gln117Arg
ENST00000372037.8:c.350A>G MANE Select	ENSP00000361107.2:p.Gln117Arg
ENST00000635816.1:c.350A>G	ENSP00000489707.1:p.Gln117Arg
ENST00000636056.1:c.350A>G	ENSP00000490273.1:p.Gln117Arg
ENST00000638429.1:c.350A>G	ENSP00000492290.1:p.Gln117Arg
ENST00000372037.7:c.350A>G	ENSP00000361107.1:p.Gln117Arg
NM_004329.2:c.350A>G , LRG_298t1:c.350A>G	NP_004320.2:p.Gln117Arg
XM_011540103.1:c.350A>G	XP_011538405.1:p.Gln117Arg
XM_011540104.1:c.350A>G	XP_011538406.1:p.Gln117Arg
XM_011540103.2:c.350A>G	XP_011538405.1:p.Gln117Arg
XM_011540104.2:c.350A>G	XP_011538406.1:p.Gln117Arg
NM_004329.3:c.350A>G MANE Select	NP_004320.2:p.Gln117Arg