Canonical Allele Identifier: CA164082
Gene: BMPR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 140971
ClinVar RCV Id: RCV000129262
dbSNP Id: rs587781407
MyVariant Identifiers: chr10:g.88683349A>G (hg19) chr10:g.86923592A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86923592A>G , CM000672.2:g.86923592A>G GRCh38
NC_000010.10:g.88683349A>G , CM000672.1:g.88683349A>G GRCh37
NC_000010.9:g.88673329A>G NCBI36
NG_009362.1:g.171954A>G , LRG_298:g.171954A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000480152.3:c.1474-2A>G ENSP00000483569.2:n.1474-2A>G
ENST00000635816.2:c.1474-2A>G ENSP00000489707.1:n.1474-2A>G
ENST00000636056.2:c.1474-2A>G ENSP00000490273.1:n.1474-2A>G
ENST00000372037.8:c.1474-2A>G MANE Select ENSP00000361107.2:n.1474-2A>G
ENST00000635816.1:c.1474-2A>G ENSP00000489707.1:n.1474-2A>G
ENST00000636056.1:c.1474-2A>G ENSP00000490273.1:n.1474-2A>G
ENST00000638429.1:c.1474-2A>G ENSP00000492290.1:n.1474-2A>G
ENST00000372037.7:c.1474-2A>G ENSP00000361107.1:n.1474-2A>G
NM_004329.2:c.1474-2A>G , LRG_298t1:c.1474-2A>G NP_004320.2:n.1474-2A>G
XM_011540103.1:c.1474-2A>G XP_011538405.1:n.1474-2A>G
XM_011540104.1:c.1474-2A>G XP_011538406.1:n.1474-2A>G
XM_011540103.2:c.1474-2A>G XP_011538405.1:n.1474-2A>G
XM_011540104.2:c.1474-2A>G XP_011538406.1:n.1474-2A>G
NM_004329.3:c.1474-2A>G MANE Select NP_004320.2:n.1474-2A>G
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