Canonical Allele Identifier: CA2521342703
Gene: BMPR1B HGNC NCBI

Linked Data

gnomAD v4: 4-95154876-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.95154876T>C , CM000666.2:g.95154876T>C GRCh38
NC_000004.11:g.96076027T>C , CM000666.1:g.96076027T>C GRCh37
NC_000004.10:g.96295050T>C NCBI36
NG_009245.1:g.401900T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000440890.7:c.*203T>C ENSP00000401907.2:n.*203T>C
ENST00000509540.6:c.*13+190T>C ENSP00000421671.1:n.*13+190T>C
ENST00000515059.6:c.*203T>C MANE Select ENSP00000426617.1:n.*203T>C
ENST00000672698.1:c.*203T>C ENSP00000500035.1:n.*203T>C
ENST00000394931.1:c.*203T>C ENSP00000378389.1:n.*203T>C
ENST00000440890.6:c.*203T>C ENSP00000401907.2:n.*203T>C
ENST00000515059.5:c.*203T>C ENSP00000426617.1:n.*203T>C
NM_001203.2:c.*203T>C NP_001194.1:n.*203T>C
NM_001256792.1:c.*203T>C NP_001243721.1:n.*203T>C
NM_001256793.1:c.*203T>C NP_001243722.1:n.*203T>C
NM_001256794.1:c.*203T>C NP_001243723.1:n.*203T>C
XM_011532201.1:c.*203T>C XP_011530503.1:n.*203T>C
XM_011532202.1:c.*203T>C XP_011530504.1:n.*203T>C
XM_011532201.2:c.*203T>C XP_011530503.1:n.*203T>C
XM_017008558.1:c.*203T>C XP_016864047.1:n.*203T>C
XM_017008559.1:c.*203T>C XP_016864048.1:n.*203T>C
XM_017008560.1:c.*203T>C XP_016864049.1:n.*203T>C
XM_017008561.1:c.*203T>C XP_016864050.1:n.*203T>C
NM_001203.3:c.*203T>C MANE Select NP_001194.1:n.*203T>C
NM_001256793.2:c.*203T>C NP_001243722.1:n.*203T>C
NM_001256792.2:c.*203T>C NP_001243721.1:n.*203T>C