Canonical Allele Identifier: CA1065615549
Gene: BMPR1B HGNC NCBI

Linked Data

dbSNP Id: rs1729253039
gnomAD v3: 4-94935393-A-G
gnomAD v4: 4-94935393-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.94935393A>G , CM000666.2:g.94935393A>G GRCh38
NC_000004.11:g.95856544A>G , CM000666.1:g.95856544A>G GRCh37
NC_000004.10:g.96075567A>G NCBI36
NG_009245.1:g.182417A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000515059.6:c.-113+59493A>G MANE Select ENSP00000426617.1:n.-113+59493A>G
ENST00000515059.5:c.-113+59493A>G ENSP00000426617.1:n.-113+59493A>G
NM_001203.2:c.-113+59493A>G NP_001194.1:n.-113+59493A>G
XM_011532201.1:c.-18+59493A>G XP_011530503.1:n.-18+59493A>G
XM_011532201.2:c.-18+59493A>G XP_011530503.1:n.-18+59493A>G
XM_017008558.1:c.-113+59493A>G XP_016864047.1:n.-113+59493A>G
XM_017008559.1:c.-113+36343A>G XP_016864048.1:n.-113+36343A>G
NM_001203.3:c.-113+59493A>G MANE Select NP_001194.1:n.-113+59493A>G