Canonical Allele Identifier: CA1065615590

Gene: BMPR1B

Linked Data

• dbSNP Id: rs1729257615
• gnomAD v3: 4-94935487-T-G
• gnomAD v4: 4-94935487-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.94935487T>G , CM000666.2:g.94935487T>G	GRCh38
NC_000004.11:g.95856638T>G , CM000666.1:g.95856638T>G	GRCh37
NC_000004.10:g.96075661T>G	NCBI36
NG_009245.1:g.182511T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000515059.6:c.-113+59587T>G MANE Select	ENSP00000426617.1:n.-113+59587T>G
ENST00000515059.5:c.-113+59587T>G	ENSP00000426617.1:n.-113+59587T>G
NM_001203.2:c.-113+59587T>G	NP_001194.1:n.-113+59587T>G
XM_011532201.1:c.-18+59587T>G	XP_011530503.1:n.-18+59587T>G
XM_011532201.2:c.-18+59587T>G	XP_011530503.1:n.-18+59587T>G
XM_017008558.1:c.-113+59587T>G	XP_016864047.1:n.-113+59587T>G
XM_017008559.1:c.-113+36437T>G	XP_016864048.1:n.-113+36437T>G
NM_001203.3:c.-113+59587T>G MANE Select	NP_001194.1:n.-113+59587T>G