Canonical Allele Identifier: CA553455165

Gene: BMPR1B

Linked Data

• dbSNP Id: rs1210860469
• gnomAD v2: 4-95856548-T-C
• gnomAD v3: 4-94935397-T-C
• gnomAD v4: 4-94935397-T-C
• MyVariant Identifiers: chr4:g.95856548T>C (hg19) ; chr4:g.94935397T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.94935397T>C , CM000666.2:g.94935397T>C	GRCh38
NC_000004.11:g.95856548T>C , CM000666.1:g.95856548T>C	GRCh37
NC_000004.10:g.96075571T>C	NCBI36
NG_009245.1:g.182421T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000515059.6:c.-113+59497T>C MANE Select	ENSP00000426617.1:n.-113+59497T>C
ENST00000515059.5:c.-113+59497T>C	ENSP00000426617.1:n.-113+59497T>C
NM_001203.2:c.-113+59497T>C	NP_001194.1:n.-113+59497T>C
XM_011532201.1:c.-18+59497T>C	XP_011530503.1:n.-18+59497T>C
XM_011532201.2:c.-18+59497T>C	XP_011530503.1:n.-18+59497T>C
XM_017008558.1:c.-113+59497T>C	XP_016864047.1:n.-113+59497T>C
XM_017008559.1:c.-113+36347T>C	XP_016864048.1:n.-113+36347T>C
NM_001203.3:c.-113+59497T>C MANE Select	NP_001194.1:n.-113+59497T>C