Canonical Allele Identifier: CA1065630741
Gene: BMPR1B HGNC NCBI

Linked Data

dbSNP Id: rs1450163928
gnomAD v3: 4-95154699-G-A
gnomAD v4: 4-95154699-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.95154699G>A , CM000666.2:g.95154699G>A GRCh38
NC_000004.11:g.96075850G>A , CM000666.1:g.96075850G>A GRCh37
NC_000004.10:g.96294873G>A NCBI36
NG_009245.1:g.401723G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000440890.7:c.*26G>A ENSP00000401907.2:n.*26G>A
ENST00000509540.6:c.*13+13G>A ENSP00000421671.1:n.*13+13G>A
ENST00000515059.6:c.*26G>A MANE Select ENSP00000426617.1:n.*26G>A
ENST00000672698.1:c.*26G>A ENSP00000500035.1:n.*26G>A
ENST00000264568.8:c.*26G>A ENSP00000264568.4:n.*26G>A
ENST00000394931.1:c.*26G>A ENSP00000378389.1:n.*26G>A
ENST00000440890.6:c.*26G>A ENSP00000401907.2:n.*26G>A
ENST00000509540.5:c.*26G>A ENSP00000421671.1:n.*26G>A
ENST00000515059.5:c.*26G>A ENSP00000426617.1:n.*26G>A
NM_001203.2:c.*26G>A NP_001194.1:n.*26G>A
NM_001256792.1:c.*26G>A NP_001243721.1:n.*26G>A
NM_001256793.1:c.*26G>A NP_001243722.1:n.*26G>A
NM_001256794.1:c.*26G>A NP_001243723.1:n.*26G>A
XM_011532201.1:c.*26G>A XP_011530503.1:n.*26G>A
XM_011532202.1:c.*26G>A XP_011530504.1:n.*26G>A
XM_011532201.2:c.*26G>A XP_011530503.1:n.*26G>A
XM_017008558.1:c.*26G>A XP_016864047.1:n.*26G>A
XM_017008559.1:c.*26G>A XP_016864048.1:n.*26G>A
XM_017008560.1:c.*26G>A XP_016864049.1:n.*26G>A
XM_017008561.1:c.*26G>A XP_016864050.1:n.*26G>A
NM_001203.3:c.*26G>A MANE Select NP_001194.1:n.*26G>A
NM_001256793.2:c.*26G>A NP_001243722.1:n.*26G>A
NM_001256792.2:c.*26G>A NP_001243721.1:n.*26G>A