Canonical Allele Identifier: CA191784

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 185387
• ClinVar RCV Id: RCV000164797
• dbSNP Id: rs786202136
• COSMIC: COSM6130293 ; COSM6130294
• MyVariant Identifiers: chr10:g.88659610C>G (hg19) ; chr10:g.86899853C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86899853C>G , CM000672.2:g.86899853C>G	GRCh38
NC_000010.10:g.88659610C>G , CM000672.1:g.88659610C>G	GRCh37
NC_000010.9:g.88649590C>G	NCBI36
NG_009362.1:g.148215C>G , LRG_298:g.148215C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480152.3:c.393C>G	ENSP00000483569.2:p.Asn131Lys
ENST00000635816.2:c.393C>G	ENSP00000489707.1:p.Asn131Lys
ENST00000636056.2:c.393C>G	ENSP00000490273.1:p.Asn131Lys
ENST00000372037.8:c.393C>G MANE Select	ENSP00000361107.2:p.Asn131Lys
ENST00000635816.1:c.393C>G	ENSP00000489707.1:p.Asn131Lys
ENST00000636056.1:c.393C>G	ENSP00000490273.1:p.Asn131Lys
ENST00000638429.1:c.393C>G	ENSP00000492290.1:p.Asn131Lys
ENST00000372037.7:c.393C>G	ENSP00000361107.1:p.Asn131Lys
NM_004329.2:c.393C>G , LRG_298t1:c.393C>G	NP_004320.2:p.Asn131Lys
XM_011540103.1:c.393C>G	XP_011538405.1:p.Asn131Lys
XM_011540104.1:c.393C>G	XP_011538406.1:p.Asn131Lys
XM_011540103.2:c.393C>G	XP_011538405.1:p.Asn131Lys
XM_011540104.2:c.393C>G	XP_011538406.1:p.Asn131Lys
NM_004329.3:c.393C>G MANE Select	NP_004320.2:p.Asn131Lys