Canonical Allele Identifier: CA279104

Gene: BMPR1B

Linked Data

• ClinVar Variation Id: 217254
• ClinVar RCV Id: RCV000201167
• dbSNP Id: rs863225041
• MyVariant Identifiers: chr4:g.96035884T>C (hg19) ; chr4:g.95114733T>C (hg38)
• PubMed: PMID:24129431

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.95114733T>C , CM000666.2:g.95114733T>C	GRCh38
NC_000004.11:g.96035884T>C , CM000666.1:g.96035884T>C	GRCh37
NC_000004.10:g.96254907T>C	NCBI36
NG_009245.1:g.361757T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440890.7:c.247T>C	ENSP00000401907.2:p.Cys83Arg
ENST00000502683.6:n.368T>C
ENST00000509540.6:c.157T>C	ENSP00000421671.1:p.Cys53Arg
ENST00000515059.6:c.157T>C MANE Select	ENSP00000426617.1:p.Cys53Arg
ENST00000672698.1:c.157T>C	ENSP00000500035.1:p.Cys53Arg
ENST00000264568.8:c.157T>C	ENSP00000264568.4:p.Cys53Arg
ENST00000394931.1:c.157T>C	ENSP00000378389.1:p.Cys53Arg
ENST00000440890.6:c.247T>C	ENSP00000401907.2:p.Cys83Arg
ENST00000502683.5:c.157T>C	ENSP00000424693.1:p.Cys53Arg
ENST00000506363.5:c.157T>C	ENSP00000421144.1:p.Cys53Arg
ENST00000509540.5:c.157T>C	ENSP00000421671.1:p.Cys53Arg
ENST00000512312.5:c.157T>C	ENSP00000425444.1:p.Cys53Arg
ENST00000515059.5:c.157T>C	ENSP00000426617.1:p.Cys53Arg
NM_001203.2:c.157T>C	NP_001194.1:p.Cys53Arg
NM_001256792.1:c.157T>C	NP_001243721.1:p.Cys53Arg
NM_001256793.1:c.247T>C	NP_001243722.1:p.Cys83Arg
NM_001256794.1:c.157T>C	NP_001243723.1:p.Cys53Arg
XM_011532201.1:c.157T>C	XP_011530503.1:p.Cys53Arg
XM_011532202.1:c.157T>C	XP_011530504.1:p.Cys53Arg
XM_011532201.2:c.157T>C	XP_011530503.1:p.Cys53Arg
XM_017008558.1:c.157T>C	XP_016864047.1:p.Cys53Arg
XM_017008559.1:c.157T>C	XP_016864048.1:p.Cys53Arg
XM_017008560.1:c.157T>C	XP_016864049.1:p.Cys53Arg
XM_017008561.1:c.157T>C	XP_016864050.1:p.Cys53Arg
NM_001203.3:c.157T>C MANE Select	NP_001194.1:p.Cys53Arg
NM_001256793.2:c.247T>C	NP_001243722.1:p.Cys83Arg
NM_001256792.2:c.157T>C	NP_001243721.1:p.Cys53Arg