Canonical Allele Identifier: CA254365
Gene: BMPR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 8236
ClinVar RCV Id: RCV000569040 RCV001312228
dbSNP Id: rs199476089
MyVariant Identifiers: chr10:g.88683199T>C (hg19) chr10:g.86923442T>C (hg38)
PubMed: PMID:10797267 PMID:12630959
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86923442T>C , CM000672.2:g.86923442T>C GRCh38
NC_000010.10:g.88683199T>C , CM000672.1:g.88683199T>C GRCh37
NC_000010.9:g.88673179T>C NCBI36
NG_009362.1:g.171804T>C , LRG_298:g.171804T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000480152.3:c.1409T>C ENSP00000483569.2:p.Met470Thr
ENST00000635816.2:c.1409T>C ENSP00000489707.1:p.Met470Thr
ENST00000636056.2:c.1409T>C ENSP00000490273.1:p.Met470Thr
ENST00000372037.8:c.1409T>C MANE Select ENSP00000361107.2:p.Met470Thr
ENST00000635816.1:c.1409T>C ENSP00000489707.1:p.Met470Thr
ENST00000636056.1:c.1409T>C ENSP00000490273.1:p.Met470Thr
ENST00000638429.1:c.1409T>C ENSP00000492290.1:p.Met470Thr
ENST00000372037.7:c.1409T>C ENSP00000361107.1:p.Met470Thr
NM_004329.2:c.1409T>C , LRG_298t1:c.1409T>C NP_004320.2:p.Met470Thr
XM_011540103.1:c.1409T>C XP_011538405.1:p.Met470Thr
XM_011540104.1:c.1409T>C XP_011538406.1:p.Met470Thr
XM_011540103.2:c.1409T>C XP_011538405.1:p.Met470Thr
XM_011540104.2:c.1409T>C XP_011538406.1:p.Met470Thr
NM_004329.3:c.1409T>C MANE Select NP_004320.2:p.Met470Thr
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