Canonical Allele Identifier: CA410676793
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724071C>A , CM000684.2:g.19724071C>A GRCh38
NC_000022.10:g.19711594C>A , CM000684.1:g.19711594C>A GRCh37
NC_000022.9:g.18091594C>A NCBI36
NG_007974.1:g.5529C>A , LRG_478:g.5529C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.228C>A (GP1BB) MANE Select ENSP00000383382.2:p.Asp76Glu
ENST00000366425.3:c.228C>A (GP1BB) ENSP00000383382.2:p.Asp76Glu
ENST00000431044.5:c.*1313C>A (SEPTIN5) ENSP00000399685.1:n.*1313C>A
ENST00000455843.5:c.*1313C>A (SEPTIN5) ENSP00000391731.1:n.*1313C>A
ENST00000470814.1:n.2200C>A (SEPTIN5)
NM_000407.4:c.228C>A , LRG_478t1:c.228C>A (GP1BB) NP_000398.1:p.Asp76Glu
NR_037611.1:n.3968C>A
NR_037612.1:n.2472C>A
NM_000407.5:c.228C>A (GP1BB) MANE Select NP_000398.1:p.Asp76Glu