Canonical Allele Identifier: CA102292601
Gene: BMPR1B HGNC NCBI

Linked Data

dbSNP Id: rs555589751
gnomAD v2: 4-95856546-T-A
gnomAD v3: 4-94935395-T-A
gnomAD v4: 4-94935395-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.94935395T>A , CM000666.2:g.94935395T>A GRCh38
NC_000004.11:g.95856546T>A , CM000666.1:g.95856546T>A GRCh37
NC_000004.10:g.96075569T>A NCBI36
NG_009245.1:g.182419T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000515059.6:c.-113+59495T>A MANE Select ENSP00000426617.1:n.-113+59495T>A
ENST00000515059.5:c.-113+59495T>A ENSP00000426617.1:n.-113+59495T>A
NM_001203.2:c.-113+59495T>A NP_001194.1:n.-113+59495T>A
XM_011532201.1:c.-18+59495T>A XP_011530503.1:n.-18+59495T>A
XM_011532201.2:c.-18+59495T>A XP_011530503.1:n.-18+59495T>A
XM_017008558.1:c.-113+59495T>A XP_016864047.1:n.-113+59495T>A
XM_017008559.1:c.-113+36345T>A XP_016864048.1:n.-113+36345T>A
NM_001203.3:c.-113+59495T>A MANE Select NP_001194.1:n.-113+59495T>A