Canonical Allele Identifier: CA800319874
Gene: BMPR1B HGNC NCBI

Linked Data

dbSNP Id: rs1340694211

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.94935383T>C , CM000666.2:g.94935383T>C GRCh38
NC_000004.11:g.95856534T>C , CM000666.1:g.95856534T>C GRCh37
NC_000004.10:g.96075557T>C NCBI36
NG_009245.1:g.182407T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000515059.6:c.-113+59483T>C MANE Select ENSP00000426617.1:n.-113+59483T>C
ENST00000515059.5:c.-113+59483T>C ENSP00000426617.1:n.-113+59483T>C
NM_001203.2:c.-113+59483T>C NP_001194.1:n.-113+59483T>C
XM_011532201.1:c.-18+59483T>C XP_011530503.1:n.-18+59483T>C
XM_011532201.2:c.-18+59483T>C XP_011530503.1:n.-18+59483T>C
XM_017008558.1:c.-113+59483T>C XP_016864047.1:n.-113+59483T>C
XM_017008559.1:c.-113+36333T>C XP_016864048.1:n.-113+36333T>C
NM_001203.3:c.-113+59483T>C MANE Select NP_001194.1:n.-113+59483T>C