Canonical Allele Identifier: CA377457908
Gene: BMPR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 663000
dbSNP Id: rs1589290731

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86917231T>C , CM000672.2:g.86917231T>C GRCh38
NC_000010.10:g.88676988T>C , CM000672.1:g.88676988T>C GRCh37
NC_000010.9:g.88666968T>C NCBI36
NG_009362.1:g.165593T>C , LRG_298:g.165593T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000480152.3:c.773T>C ENSP00000483569.2:p.Val258Ala
ENST00000635816.2:c.773T>C ENSP00000489707.1:p.Val258Ala
ENST00000636056.2:c.773T>C ENSP00000490273.1:p.Val258Ala
ENST00000372037.8:c.773T>C MANE Select ENSP00000361107.2:p.Val258Ala
ENST00000635816.1:c.773T>C ENSP00000489707.1:p.Val258Ala
ENST00000636056.1:c.773T>C ENSP00000490273.1:p.Val258Ala
ENST00000638429.1:c.773T>C ENSP00000492290.1:p.Val258Ala
ENST00000372037.7:c.773T>C ENSP00000361107.1:p.Val258Ala
NM_004329.2:c.773T>C , LRG_298t1:c.773T>C NP_004320.2:p.Val258Ala
XM_011540103.1:c.773T>C XP_011538405.1:p.Val258Ala
XM_011540104.1:c.773T>C XP_011538406.1:p.Val258Ala
XM_011540103.2:c.773T>C XP_011538405.1:p.Val258Ala
XM_011540104.2:c.773T>C XP_011538406.1:p.Val258Ala
NM_004329.3:c.773T>C MANE Select NP_004320.2:p.Val258Ala