Canonical Allele Identifier: CA102292619

Gene: BMPR1B

Linked Data

• dbSNP Id: rs192489705
• gnomAD v2: 4-95856683-A-G
• gnomAD v3: 4-94935532-A-G
• gnomAD v4: 4-94935532-A-G
• MyVariant Identifiers: chr4:g.95856683A>G (hg19) ; chr4:g.94935532A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.94935532A>G , CM000666.2:g.94935532A>G	GRCh38
NC_000004.11:g.95856683A>G , CM000666.1:g.95856683A>G	GRCh37
NC_000004.10:g.96075706A>G	NCBI36
NG_009245.1:g.182556A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000515059.6:c.-113+59632A>G MANE Select	ENSP00000426617.1:n.-113+59632A>G
ENST00000515059.5:c.-113+59632A>G	ENSP00000426617.1:n.-113+59632A>G
NM_001203.2:c.-113+59632A>G	NP_001194.1:n.-113+59632A>G
XM_011532201.1:c.-18+59632A>G	XP_011530503.1:n.-18+59632A>G
XM_011532201.2:c.-18+59632A>G	XP_011530503.1:n.-18+59632A>G
XM_017008558.1:c.-113+59632A>G	XP_016864047.1:n.-113+59632A>G
XM_017008559.1:c.-113+36482A>G	XP_016864048.1:n.-113+36482A>G
NM_001203.3:c.-113+59632A>G MANE Select	NP_001194.1:n.-113+59632A>G