Canonical Allele Identifier: CA1477857960

Gene: BMPR1B

Linked Data

• dbSNP Id: rs1729263743

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.94935614G>A , CM000666.2:g.94935614G>A	GRCh38
NC_000004.11:g.95856765G>A , CM000666.1:g.95856765G>A	GRCh37
NC_000004.10:g.96075788G>A	NCBI36
NG_009245.1:g.182638G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000515059.6:c.-113+59714G>A MANE Select	ENSP00000426617.1:n.-113+59714G>A
ENST00000515059.5:c.-113+59714G>A	ENSP00000426617.1:n.-113+59714G>A
NM_001203.2:c.-113+59714G>A	NP_001194.1:n.-113+59714G>A
XM_011532201.1:c.-18+59714G>A	XP_011530503.1:n.-18+59714G>A
XM_011532201.2:c.-18+59714G>A	XP_011530503.1:n.-18+59714G>A
XM_017008558.1:c.-113+59714G>A	XP_016864047.1:n.-113+59714G>A
XM_017008559.1:c.-113+36564G>A	XP_016864048.1:n.-113+36564G>A
NM_001203.3:c.-113+59714G>A MANE Select	NP_001194.1:n.-113+59714G>A