Canonical Allele Identifier: CA168082
Gene: BMPR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 142329
dbSNP Id: rs587782388

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86899831G>A , CM000672.2:g.86899831G>A GRCh38
NC_000010.10:g.88659588G>A , CM000672.1:g.88659588G>A GRCh37
NC_000010.9:g.88649568G>A NCBI36
NG_009362.1:g.148193G>A , LRG_298:g.148193G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000480152.3:c.371G>A ENSP00000483569.2:p.Cys124Tyr
ENST00000635816.2:c.371G>A ENSP00000489707.1:p.Cys124Tyr
ENST00000636056.2:c.371G>A ENSP00000490273.1:p.Cys124Tyr
ENST00000372037.8:c.371G>A MANE Select ENSP00000361107.2:p.Cys124Tyr
ENST00000635816.1:c.371G>A ENSP00000489707.1:p.Cys124Tyr
ENST00000636056.1:c.371G>A ENSP00000490273.1:p.Cys124Tyr
ENST00000638429.1:c.371G>A ENSP00000492290.1:p.Cys124Tyr
ENST00000372037.7:c.371G>A ENSP00000361107.1:p.Cys124Tyr
NM_004329.2:c.371G>A , LRG_298t1:c.371G>A NP_004320.2:p.Cys124Tyr
XM_011540103.1:c.371G>A XP_011538405.1:p.Cys124Tyr
XM_011540104.1:c.371G>A XP_011538406.1:p.Cys124Tyr
XM_011540103.2:c.371G>A XP_011538405.1:p.Cys124Tyr
XM_011540104.2:c.371G>A XP_011538406.1:p.Cys124Tyr
NM_004329.3:c.371G>A MANE Select NP_004320.2:p.Cys124Tyr