Canonical Allele Identifier: CA3014934

Gene: BMPR1B

Linked Data

• ClinVar Variation Id: 285442
• ClinVar RCV Id: RCV000304200 ; RCV002518966 ; RCV003920095
• dbSNP Id: rs759423600
• ExAC: 4:96036878 A / G
• gnomAD v2: 4-96036878-A-G
• gnomAD v3: 4-95115727-A-G
• gnomAD v4: 4-95115727-A-G
• MyVariant Identifiers: chr4:g.96036878A>G (hg19) ; chr4:g.95115727A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.95115727A>G , CM000666.2:g.95115727A>G	GRCh38
NC_000004.11:g.96036878A>G , CM000666.1:g.96036878A>G	GRCh37
NC_000004.10:g.96255901A>G	NCBI36
NG_009245.1:g.362751A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440890.7:c.379A>G	ENSP00000401907.2:p.Thr127Ala
ENST00000502683.6:n.505A>G
ENST00000509540.6:c.289A>G	ENSP00000421671.1:p.Thr97Ala
ENST00000515059.6:c.289A>G MANE Select	ENSP00000426617.1:p.Thr97Ala
ENST00000672698.1:c.289A>G	ENSP00000500035.1:p.Thr97Ala
ENST00000264568.8:c.289A>G	ENSP00000264568.4:p.Thr97Ala
ENST00000394931.1:c.289A>G	ENSP00000378389.1:p.Thr97Ala
ENST00000440890.6:c.379A>G	ENSP00000401907.2:p.Thr127Ala
ENST00000502683.5:c.294A>G	ENSP00000424693.1:p.Ala98=
ENST00000506363.5:c.289A>G	ENSP00000421144.1:p.Thr97Ala
ENST00000509540.5:c.289A>G	ENSP00000421671.1:p.Thr97Ala
ENST00000512312.5:c.289A>G	ENSP00000425444.1:p.Thr97Ala
ENST00000515059.5:c.289A>G	ENSP00000426617.1:p.Thr97Ala
NM_001203.2:c.289A>G	NP_001194.1:p.Thr97Ala
NM_001256792.1:c.289A>G	NP_001243721.1:p.Thr97Ala
NM_001256793.1:c.379A>G	NP_001243722.1:p.Thr127Ala
NM_001256794.1:c.289A>G	NP_001243723.1:p.Thr97Ala
XM_011532201.1:c.289A>G	XP_011530503.1:p.Thr97Ala
XM_011532202.1:c.289A>G	XP_011530504.1:p.Thr97Ala
XM_011532201.2:c.289A>G	XP_011530503.1:p.Thr97Ala
XM_017008558.1:c.289A>G	XP_016864047.1:p.Thr97Ala
XM_017008559.1:c.289A>G	XP_016864048.1:p.Thr97Ala
XM_017008560.1:c.289A>G	XP_016864049.1:p.Thr97Ala
XM_017008561.1:c.289A>G	XP_016864050.1:p.Thr97Ala
NM_001203.3:c.289A>G MANE Select	NP_001194.1:p.Thr97Ala
NM_001256793.2:c.379A>G	NP_001243722.1:p.Thr127Ala
NM_001256792.2:c.289A>G	NP_001243721.1:p.Thr97Ala