Canonical Allele Identifier: CA168480
Gene: BMPR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 142484
ClinVar RCV Id: RCV000131622 RCV000757030 RCV000805939
dbSNP Id: rs587782494
MyVariant Identifiers: chr10:g.88659572C>T (hg19) chr10:g.86899815C>T (hg38)
PubMed: PMID:17873119
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86899815C>T , CM000672.2:g.86899815C>T GRCh38
NC_000010.10:g.88659572C>T , CM000672.1:g.88659572C>T GRCh37
NC_000010.9:g.88649552C>T NCBI36
NG_009362.1:g.148177C>T , LRG_298:g.148177C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000480152.3:c.355C>T ENSP00000483569.2:p.Arg119Cys
ENST00000635816.2:c.355C>T ENSP00000489707.1:p.Arg119Cys
ENST00000636056.2:c.355C>T ENSP00000490273.1:p.Arg119Cys
ENST00000372037.8:c.355C>T MANE Select ENSP00000361107.2:p.Arg119Cys
ENST00000635816.1:c.355C>T ENSP00000489707.1:p.Arg119Cys
ENST00000636056.1:c.355C>T ENSP00000490273.1:p.Arg119Cys
ENST00000638429.1:c.355C>T ENSP00000492290.1:p.Arg119Cys
ENST00000372037.7:c.355C>T ENSP00000361107.1:p.Arg119Cys
NM_004329.2:c.355C>T , LRG_298t1:c.355C>T NP_004320.2:p.Arg119Cys
XM_011540103.1:c.355C>T XP_011538405.1:p.Arg119Cys
XM_011540104.1:c.355C>T XP_011538406.1:p.Arg119Cys
XM_011540103.2:c.355C>T XP_011538405.1:p.Arg119Cys
XM_011540104.2:c.355C>T XP_011538406.1:p.Arg119Cys
NM_004329.3:c.355C>T MANE Select NP_004320.2:p.Arg119Cys
Search 100 bp 5'
Search 100 bp 3'