Canonical Allele Identifier: CA377446803

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 529900
• ClinVar RCV Id: RCV002234481
• dbSNP Id: rs1554888125
• MyVariant Identifiers: chr10:g.88649918T>G (hg19) ; chr10:g.86890161T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86890161T>G , CM000672.2:g.86890161T>G	GRCh38
NC_000010.10:g.88649918T>G , CM000672.1:g.88649918T>G	GRCh37
NC_000010.9:g.88639898T>G	NCBI36
NG_009362.1:g.138523T>G , LRG_298:g.138523T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000480152.3:c.167T>G	ENSP00000483569.2:p.Leu56Trp
ENST00000635816.2:c.167T>G	ENSP00000489707.1:p.Leu56Trp
ENST00000636056.2:c.167T>G	ENSP00000490273.1:p.Leu56Trp
ENST00000372037.8:c.167T>G MANE Select	ENSP00000361107.2:p.Leu56Trp
ENST00000635816.1:c.167T>G	ENSP00000489707.1:p.Leu56Trp
ENST00000636056.1:c.167T>G	ENSP00000490273.1:p.Leu56Trp
ENST00000638429.1:c.167T>G	ENSP00000492290.1:p.Leu56Trp
ENST00000372037.7:c.167T>G	ENSP00000361107.1:p.Leu56Trp
NM_004329.2:c.167T>G , LRG_298t1:c.167T>G	NP_004320.2:p.Leu56Trp
XM_011540103.1:c.167T>G	XP_011538405.1:p.Leu56Trp
XM_011540104.1:c.167T>G	XP_011538406.1:p.Leu56Trp
XM_011540103.2:c.167T>G	XP_011538405.1:p.Leu56Trp
XM_011540104.2:c.167T>G	XP_011538406.1:p.Leu56Trp
NM_004329.3:c.167T>G MANE Select	NP_004320.2:p.Leu56Trp