Canonical Allele Identifier: CA2762701567

Gene: BMPR1B

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.94935562C>A , CM000666.2:g.94935562C>A	GRCh38
NC_000004.11:g.95856713C>A , CM000666.1:g.95856713C>A	GRCh37
NC_000004.10:g.96075736C>A	NCBI36
NG_009245.1:g.182586C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000515059.6:c.-113+59662C>A MANE Select	ENSP00000426617.1:n.-113+59662C>A
ENST00000515059.5:c.-113+59662C>A	ENSP00000426617.1:n.-113+59662C>A
NM_001203.2:c.-113+59662C>A	NP_001194.1:n.-113+59662C>A
XM_011532201.1:c.-18+59662C>A	XP_011530503.1:n.-18+59662C>A
XM_011532201.2:c.-18+59662C>A	XP_011530503.1:n.-18+59662C>A
XM_017008558.1:c.-113+59662C>A	XP_016864047.1:n.-113+59662C>A
XM_017008559.1:c.-113+36512C>A	XP_016864048.1:n.-113+36512C>A
NM_001203.3:c.-113+59662C>A MANE Select	NP_001194.1:n.-113+59662C>A