Canonical Allele Identifier: CA101681922
Gene: BMPR1B HGNC NCBI

Linked Data

dbSNP Id: rs890799553
gnomAD v3: 4-95154824-G-A
gnomAD v4: 4-95154824-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.95154824G>A , CM000666.2:g.95154824G>A GRCh38
NC_000004.11:g.96075975G>A , CM000666.1:g.96075975G>A GRCh37
NC_000004.10:g.96294998G>A NCBI36
NG_009245.1:g.401848G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000440890.7:c.*151G>A ENSP00000401907.2:n.*151G>A
ENST00000509540.6:c.*13+138G>A ENSP00000421671.1:n.*13+138G>A
ENST00000515059.6:c.*151G>A MANE Select ENSP00000426617.1:n.*151G>A
ENST00000672698.1:c.*151G>A ENSP00000500035.1:n.*151G>A
ENST00000394931.1:c.*151G>A ENSP00000378389.1:n.*151G>A
ENST00000440890.6:c.*151G>A ENSP00000401907.2:n.*151G>A
ENST00000515059.5:c.*151G>A ENSP00000426617.1:n.*151G>A
NM_001203.2:c.*151G>A NP_001194.1:n.*151G>A
NM_001256792.1:c.*151G>A NP_001243721.1:n.*151G>A
NM_001256793.1:c.*151G>A NP_001243722.1:n.*151G>A
NM_001256794.1:c.*151G>A NP_001243723.1:n.*151G>A
XM_011532201.1:c.*151G>A XP_011530503.1:n.*151G>A
XM_011532202.1:c.*151G>A XP_011530504.1:n.*151G>A
XM_011532201.2:c.*151G>A XP_011530503.1:n.*151G>A
XM_017008558.1:c.*151G>A XP_016864047.1:n.*151G>A
XM_017008559.1:c.*151G>A XP_016864048.1:n.*151G>A
XM_017008560.1:c.*151G>A XP_016864049.1:n.*151G>A
XM_017008561.1:c.*151G>A XP_016864050.1:n.*151G>A
NM_001203.3:c.*151G>A MANE Select NP_001194.1:n.*151G>A
NM_001256793.2:c.*151G>A NP_001243722.1:n.*151G>A
NM_001256792.2:c.*151G>A NP_001243721.1:n.*151G>A