Canonical Allele Identifier: CA352439

Gene: BMPR1B

Linked Data

• ClinVar Variation Id: 223155
• ClinVar RCV Id: RCV000208781
• dbSNP Id: rs869025613
• MyVariant Identifiers: chr4:g.96046133G>A (hg19) ; chr4:g.95124982G>A (hg38)
• PubMed: PMID:25758993

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.95124982G>A , CM000666.2:g.95124982G>A	GRCh38
NC_000004.11:g.96046133G>A , CM000666.1:g.96046133G>A	GRCh37
NC_000004.10:g.96265156G>A	NCBI36
NG_009245.1:g.372006G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440890.7:c.537-1G>A	ENSP00000401907.2:n.537-1G>A
ENST00000509540.6:c.447-1G>A	ENSP00000421671.1:n.447-1G>A
ENST00000515059.6:c.447-1G>A MANE Select	ENSP00000426617.1:n.447-1G>A
ENST00000672698.1:c.447-1G>A	ENSP00000500035.1:n.447-1G>A
ENST00000264568.8:c.447-1G>A	ENSP00000264568.4:n.447-1G>A
ENST00000394931.1:c.447-1G>A	ENSP00000378389.1:n.447-1G>A
ENST00000440890.6:c.537-1G>A	ENSP00000401907.2:n.537-1G>A
ENST00000509540.5:c.447-1G>A	ENSP00000421671.1:n.447-1G>A
ENST00000512312.5:c.447-1G>A	ENSP00000425444.1:n.447-1G>A
ENST00000515059.5:c.447-1G>A	ENSP00000426617.1:n.447-1G>A
NM_001203.2:c.447-1G>A	NP_001194.1:n.447-1G>A
NM_001256792.1:c.447-1G>A	NP_001243721.1:n.447-1G>A
NM_001256793.1:c.537-1G>A	NP_001243722.1:n.537-1G>A
NM_001256794.1:c.447-1G>A	NP_001243723.1:n.447-1G>A
XM_011532201.1:c.447-1G>A	XP_011530503.1:n.447-1G>A
XM_011532202.1:c.447-1G>A	XP_011530504.1:n.447-1G>A
XM_011532201.2:c.447-1G>A	XP_011530503.1:n.447-1G>A
XM_017008558.1:c.447-1G>A	XP_016864047.1:n.447-1G>A
XM_017008559.1:c.447-1G>A	XP_016864048.1:n.447-1G>A
XM_017008560.1:c.447-1G>A	XP_016864049.1:n.447-1G>A
XM_017008561.1:c.447-1G>A	XP_016864050.1:n.447-1G>A
NM_001203.3:c.447-1G>A MANE Select	NP_001194.1:n.447-1G>A
NM_001256793.2:c.537-1G>A	NP_001243722.1:n.537-1G>A
NM_001256792.2:c.447-1G>A	NP_001243721.1:n.447-1G>A