Canonical Allele Identifier: CA1477875620

Gene: BMPR1B

Linked Data

• dbSNP Id: rs1578821195

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.94935470C>T , CM000666.2:g.94935470C>T	GRCh38
NC_000004.11:g.95856621C>T , CM000666.1:g.95856621C>T	GRCh37
NC_000004.10:g.96075644C>T	NCBI36
NG_009245.1:g.182494C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000515059.6:c.-113+59570C>T MANE Select	ENSP00000426617.1:n.-113+59570C>T
ENST00000515059.5:c.-113+59570C>T	ENSP00000426617.1:n.-113+59570C>T
NM_001203.2:c.-113+59570C>T	NP_001194.1:n.-113+59570C>T
XM_011532201.1:c.-18+59570C>T	XP_011530503.1:n.-18+59570C>T
XM_011532201.2:c.-18+59570C>T	XP_011530503.1:n.-18+59570C>T
XM_017008558.1:c.-113+59570C>T	XP_016864047.1:n.-113+59570C>T
XM_017008559.1:c.-113+36420C>T	XP_016864048.1:n.-113+36420C>T
NM_001203.3:c.-113+59570C>T MANE Select	NP_001194.1:n.-113+59570C>T