Canonical Allele Identifier: CA553460478
Gene: BMPR1B HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.94912883G>C , CM000666.2:g.94912883G>C GRCh38
NC_000004.11:g.95834034G>C , CM000666.1:g.95834034G>C GRCh37
NC_000004.10:g.96053057G>C NCBI36
NG_009245.1:g.159907G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000515059.6:c.-113+36983G>C MANE Select ENSP00000426617.1:n.-113+36983G>C
ENST00000515059.5:c.-113+36983G>C ENSP00000426617.1:n.-113+36983G>C
NM_001203.2:c.-113+36983G>C NP_001194.1:n.-113+36983G>C
XM_011532201.1:c.-18+36983G>C XP_011530503.1:n.-18+36983G>C
XM_011532201.2:c.-18+36983G>C XP_011530503.1:n.-18+36983G>C
XM_017008558.1:c.-113+36983G>C XP_016864047.1:n.-113+36983G>C
XM_017008559.1:c.-113+13833G>C XP_016864048.1:n.-113+13833G>C
NM_001203.3:c.-113+36983G>C MANE Select NP_001194.1:n.-113+36983G>C
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