Canonical Allele Identifier: CA254358
Gene: BMPR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 8231
ClinVar RCV Id: RCV001797977 RCV001810838
dbSNP Id: rs199476085
MyVariant Identifiers: chr10:g.88677027G>A (hg19) chr10:g.86917270G>A (hg38)
PubMed: PMID:11381269
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86917270G>A , CM000672.2:g.86917270G>A GRCh38
NC_000010.10:g.88677027G>A , CM000672.1:g.88677027G>A GRCh37
NC_000010.9:g.88667007G>A NCBI36
NG_009362.1:g.165632G>A , LRG_298:g.165632G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000480152.3:c.812G>A ENSP00000483569.2:p.Trp271Ter
ENST00000635816.2:c.812G>A ENSP00000489707.1:p.Trp271Ter
ENST00000636056.2:c.812G>A ENSP00000490273.1:p.Trp271Ter
ENST00000372037.8:c.812G>A MANE Select ENSP00000361107.2:p.Trp271Ter
ENST00000635816.1:c.812G>A ENSP00000489707.1:p.Trp271Ter
ENST00000636056.1:c.812G>A ENSP00000490273.1:p.Trp271Ter
ENST00000638429.1:c.812G>A ENSP00000492290.1:p.Trp271Ter
ENST00000372037.7:c.812G>A ENSP00000361107.1:p.Trp271Ter
NM_004329.2:c.812G>A , LRG_298t1:c.812G>A NP_004320.2:p.Trp271Ter
XM_011540103.1:c.812G>A XP_011538405.1:p.Trp271Ter
XM_011540104.1:c.812G>A XP_011538406.1:p.Trp271Ter
XM_011540103.2:c.812G>A XP_011538405.1:p.Trp271Ter
XM_011540104.2:c.812G>A XP_011538406.1:p.Trp271Ter
NM_004329.3:c.812G>A MANE Select NP_004320.2:p.Trp271Ter
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