Canonical Allele Identifier: CA377774768

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 486804
• ClinVar RCV Id: RCV000565507 ; RCV001853815
• dbSNP Id: rs1392086533
• MyVariant Identifiers: chr10:g.88635790C>A (hg19) ; chr10:g.86876033C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86876033C>A , CM000672.2:g.86876033C>A	GRCh38
NC_000010.10:g.88635790C>A , CM000672.1:g.88635790C>A	GRCh37
NC_000010.9:g.88625770C>A	NCBI36
NG_009362.1:g.124395C>A , LRG_298:g.124395C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480152.3:c.15C>A	ENSP00000483569.2:p.Tyr5Ter
ENST00000635816.2:c.15C>A	ENSP00000489707.1:p.Tyr5Ter
ENST00000636056.2:c.15C>A	ENSP00000490273.1:p.Tyr5Ter
ENST00000372037.8:c.15C>A MANE Select	ENSP00000361107.2:p.Tyr5Ter
ENST00000635816.1:c.15C>A	ENSP00000489707.1:p.Tyr5Ter
ENST00000636056.1:c.15C>A	ENSP00000490273.1:p.Tyr5Ter
ENST00000638429.1:c.15C>A	ENSP00000492290.1:p.Tyr5Ter
ENST00000372037.7:c.15C>A	ENSP00000361107.1:p.Tyr5Ter
ENST00000480152.2:c.15C>A	ENSP00000483569.1:p.Tyr5Ter
NM_004329.2:c.15C>A , LRG_298t1:c.15C>A	NP_004320.2:p.Tyr5Ter
XM_011540103.1:c.15C>A	XP_011538405.1:p.Tyr5Ter
XM_011540104.1:c.15C>A	XP_011538406.1:p.Tyr5Ter
XM_011540103.2:c.15C>A	XP_011538405.1:p.Tyr5Ter
XM_011540104.2:c.15C>A	XP_011538406.1:p.Tyr5Ter
NM_004329.3:c.15C>A MANE Select	NP_004320.2:p.Tyr5Ter