Canonical Allele Identifier: CA102292604

Gene: BMPR1B

Linked Data

• dbSNP Id: rs749482275
• MyVariant Identifiers: chr4:g.95856575C>G (hg19) ; chr4:g.94935424C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.94935424C>G , CM000666.2:g.94935424C>G	GRCh38
NC_000004.11:g.95856575C>G , CM000666.1:g.95856575C>G	GRCh37
NC_000004.10:g.96075598C>G	NCBI36
NG_009245.1:g.182448C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000515059.6:c.-113+59524C>G MANE Select	ENSP00000426617.1:n.-113+59524C>G
ENST00000515059.5:c.-113+59524C>G	ENSP00000426617.1:n.-113+59524C>G
NM_001203.2:c.-113+59524C>G	NP_001194.1:n.-113+59524C>G
XM_011532201.1:c.-18+59524C>G	XP_011530503.1:n.-18+59524C>G
XM_011532201.2:c.-18+59524C>G	XP_011530503.1:n.-18+59524C>G
XM_017008558.1:c.-113+59524C>G	XP_016864047.1:n.-113+59524C>G
XM_017008559.1:c.-113+36374C>G	XP_016864048.1:n.-113+36374C>G
NM_001203.3:c.-113+59524C>G MANE Select	NP_001194.1:n.-113+59524C>G