Canonical Allele Identifier: CA2762706581
Gene: BMPR1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.95154915A>T , CM000666.2:g.95154915A>T GRCh38
NC_000004.11:g.96076066A>T , CM000666.1:g.96076066A>T GRCh37
NC_000004.10:g.96295089A>T NCBI36
NG_009245.1:g.401939A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000440890.7:c.*242A>T ENSP00000401907.2:n.*242A>T
ENST00000509540.6:c.*13+229A>T ENSP00000421671.1:n.*13+229A>T
ENST00000515059.6:c.*242A>T MANE Select ENSP00000426617.1:n.*242A>T
ENST00000672698.1:c.*242A>T ENSP00000500035.1:n.*242A>T
ENST00000394931.1:c.*242A>T ENSP00000378389.1:n.*242A>T
ENST00000440890.6:c.*242A>T ENSP00000401907.2:n.*242A>T
ENST00000515059.5:c.*242A>T ENSP00000426617.1:n.*242A>T
NM_001203.2:c.*242A>T NP_001194.1:n.*242A>T
NM_001256792.1:c.*242A>T NP_001243721.1:n.*242A>T
NM_001256793.1:c.*242A>T NP_001243722.1:n.*242A>T
NM_001256794.1:c.*242A>T NP_001243723.1:n.*242A>T
XM_011532201.1:c.*242A>T XP_011530503.1:n.*242A>T
XM_011532202.1:c.*242A>T XP_011530504.1:n.*242A>T
XM_011532201.2:c.*242A>T XP_011530503.1:n.*242A>T
XM_017008558.1:c.*242A>T XP_016864047.1:n.*242A>T
XM_017008559.1:c.*242A>T XP_016864048.1:n.*242A>T
XM_017008560.1:c.*242A>T XP_016864049.1:n.*242A>T
XM_017008561.1:c.*242A>T XP_016864050.1:n.*242A>T
NM_001203.3:c.*242A>T MANE Select NP_001194.1:n.*242A>T
NM_001256793.2:c.*242A>T NP_001243722.1:n.*242A>T
NM_001256792.2:c.*242A>T NP_001243721.1:n.*242A>T