Canonical Allele Identifier: CA377458769
Gene: BMPR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2851249
ClinVar RCV Id: RCV003763289
dbSNP Id: rs1843588787

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86917309G>A , CM000672.2:g.86917309G>A GRCh38
NC_000010.10:g.88677066G>A , CM000672.1:g.88677066G>A GRCh37
NC_000010.9:g.88667046G>A NCBI36
NG_009362.1:g.165671G>A , LRG_298:g.165671G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000480152.3:c.851G>A ENSP00000483569.2:p.Arg284His
ENST00000635816.2:c.851G>A ENSP00000489707.1:p.Arg284His
ENST00000636056.2:c.851G>A ENSP00000490273.1:p.Arg284His
ENST00000372037.8:c.851G>A MANE Select ENSP00000361107.2:p.Arg284His
ENST00000635816.1:c.851G>A ENSP00000489707.1:p.Arg284His
ENST00000636056.1:c.851G>A ENSP00000490273.1:p.Arg284His
ENST00000638429.1:c.851G>A ENSP00000492290.1:p.Arg284His
ENST00000372037.7:c.851G>A ENSP00000361107.1:p.Arg284His
NM_004329.2:c.851G>A , LRG_298t1:c.851G>A NP_004320.2:p.Arg284His
XM_011540103.1:c.851G>A XP_011538405.1:p.Arg284His
XM_011540104.1:c.851G>A XP_011538406.1:p.Arg284His
XM_011540103.2:c.851G>A XP_011538405.1:p.Arg284His
XM_011540104.2:c.851G>A XP_011538406.1:p.Arg284His
NM_004329.3:c.851G>A MANE Select NP_004320.2:p.Arg284His