Canonical Allele Identifier: CA377457908

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 663000
• ClinVar RCV Id: RCV003596617 ; RCV004029046
• dbSNP Id: rs1589290731
• MyVariant Identifiers: chr10:g.88676988T>C (hg19) ; chr10:g.86917231T>C (hg38)

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