Canonical Allele Identifier: CA800319855

Gene: BMPR1B

Linked Data

• dbSNP Id: rs1263180523
• gnomAD v3: 4-94935372-G-A
• gnomAD v4: 4-94935372-G-A
• MyVariant Identifiers: chr4:g.95856523G>A (hg19) ; chr4:g.94935372G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.94935372G>A , CM000666.2:g.94935372G>A	GRCh38
NC_000004.11:g.95856523G>A , CM000666.1:g.95856523G>A	GRCh37
NC_000004.10:g.96075546G>A	NCBI36
NG_009245.1:g.182396G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000515059.6:c.-113+59472G>A MANE Select	ENSP00000426617.1:n.-113+59472G>A
ENST00000515059.5:c.-113+59472G>A	ENSP00000426617.1:n.-113+59472G>A
NM_001203.2:c.-113+59472G>A	NP_001194.1:n.-113+59472G>A
XM_011532201.1:c.-18+59472G>A	XP_011530503.1:n.-18+59472G>A
XM_011532201.2:c.-18+59472G>A	XP_011530503.1:n.-18+59472G>A
XM_017008558.1:c.-113+59472G>A	XP_016864047.1:n.-113+59472G>A
XM_017008559.1:c.-113+36322G>A	XP_016864048.1:n.-113+36322G>A
NM_001203.3:c.-113+59472G>A MANE Select	NP_001194.1:n.-113+59472G>A