Canonical Allele Identifier: CA658797467

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 529920
• ClinVar RCV Id: RCV002233985
• dbSNP Id: rs1554890815
• MyVariant Identifiers: chr10:g.88677079dup (hg19) ; chr10:g.86917322dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86917322dup , CM000672.2:g.86917322dup	GRCh38
NC_000010.10:g.88677079dup , CM000672.1:g.88677079dup	GRCh37
NC_000010.9:g.88667059dup	NCBI36
NG_009362.1:g.165684dup , LRG_298:g.165684dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480152.3:c.864dup	ENSP00000483569.2:p.Leu289ThrfsTer9
ENST00000635816.2:c.864dup	ENSP00000489707.1:p.Leu289ThrfsTer9
ENST00000636056.2:c.864dup	ENSP00000490273.1:p.Leu289ThrfsTer9
ENST00000372037.8:c.864dup MANE Select	ENSP00000361107.2:p.Leu289ThrfsTer9
ENST00000635816.1:c.864dup	ENSP00000489707.1:p.Leu289ThrfsTer9
ENST00000636056.1:c.864dup	ENSP00000490273.1:p.Leu289ThrfsTer9
ENST00000638429.1:c.864dup	ENSP00000492290.1:p.Leu289ThrfsTer9
ENST00000372037.7:c.864dup	ENSP00000361107.1:p.Leu289ThrfsTer9
NM_004329.2:c.864dup , LRG_298t1:c.864dup	NP_004320.2:p.Leu289ThrfsTer9
XM_011540103.1:c.864dup	XP_011538405.1:p.Leu289ThrfsTer9
XM_011540104.1:c.864dup	XP_011538406.1:p.Leu289ThrfsTer9
XM_011540103.2:c.864dup	XP_011538405.1:p.Leu289ThrfsTer9
XM_011540104.2:c.864dup	XP_011538406.1:p.Leu289ThrfsTer9
NM_004329.3:c.864dup MANE Select	NP_004320.2:p.Leu289ThrfsTer9