Canonical Allele Identifier: CA102292599

Gene: BMPR1B

Linked Data

• dbSNP Id: rs1021838346
• gnomAD v2: 4-95856539-C-T
• gnomAD v3: 4-94935388-C-T
• gnomAD v4: 4-94935388-C-T
• MyVariant Identifiers: chr4:g.95856539C>T (hg19) ; chr4:g.94935388C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.94935388C>T , CM000666.2:g.94935388C>T	GRCh38
NC_000004.11:g.95856539C>T , CM000666.1:g.95856539C>T	GRCh37
NC_000004.10:g.96075562C>T	NCBI36
NG_009245.1:g.182412C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000515059.6:c.-113+59488C>T MANE Select	ENSP00000426617.1:n.-113+59488C>T
ENST00000515059.5:c.-113+59488C>T	ENSP00000426617.1:n.-113+59488C>T
NM_001203.2:c.-113+59488C>T	NP_001194.1:n.-113+59488C>T
XM_011532201.1:c.-18+59488C>T	XP_011530503.1:n.-18+59488C>T
XM_011532201.2:c.-18+59488C>T	XP_011530503.1:n.-18+59488C>T
XM_017008558.1:c.-113+59488C>T	XP_016864047.1:n.-113+59488C>T
XM_017008559.1:c.-113+36338C>T	XP_016864048.1:n.-113+36338C>T
NM_001203.3:c.-113+59488C>T MANE Select	NP_001194.1:n.-113+59488C>T