Canonical Allele Identifier: CA377446864

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 922306
• ClinVar RCV Id: RCV001182337
• dbSNP Id: rs1843127298
• COSMIC: COSM20748 ; COSM685125
• MyVariant Identifiers: chr10:g.88649924T>A (hg19) ; chr10:g.86890167T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86890167T>A , CM000672.2:g.86890167T>A	GRCh38
NC_000010.10:g.88649924T>A , CM000672.1:g.88649924T>A	GRCh37
NC_000010.9:g.88639904T>A	NCBI36
NG_009362.1:g.138529T>A , LRG_298:g.138529T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480152.3:c.173T>A	ENSP00000483569.2:p.Phe58Tyr
ENST00000635816.2:c.173T>A	ENSP00000489707.1:p.Phe58Tyr
ENST00000636056.2:c.173T>A	ENSP00000490273.1:p.Phe58Tyr
ENST00000372037.8:c.173T>A MANE Select	ENSP00000361107.2:p.Phe58Tyr
ENST00000635816.1:c.173T>A	ENSP00000489707.1:p.Phe58Tyr
ENST00000636056.1:c.173T>A	ENSP00000490273.1:p.Phe58Tyr
ENST00000638429.1:c.173T>A	ENSP00000492290.1:p.Phe58Tyr
ENST00000372037.7:c.173T>A	ENSP00000361107.1:p.Phe58Tyr
NM_004329.2:c.173T>A , LRG_298t1:c.173T>A	NP_004320.2:p.Phe58Tyr
XM_011540103.1:c.173T>A	XP_011538405.1:p.Phe58Tyr
XM_011540104.1:c.173T>A	XP_011538406.1:p.Phe58Tyr
XM_011540103.2:c.173T>A	XP_011538405.1:p.Phe58Tyr
XM_011540104.2:c.173T>A	XP_011538406.1:p.Phe58Tyr
NM_004329.3:c.173T>A MANE Select	NP_004320.2:p.Phe58Tyr