Canonical Allele Identifier: CA410677420
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

dbSNP Id: rs1936119084

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724248C>A , CM000684.2:g.19724248C>A GRCh38
NC_000022.10:g.19711771C>A , CM000684.1:g.19711771C>A GRCh37
NC_000022.9:g.18091771C>A NCBI36
NG_007974.1:g.5706C>A , LRG_478:g.5706C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.405C>A (GP1BB) MANE Select ENSP00000383382.2:p.Asp135Glu
ENST00000366425.3:c.405C>A (GP1BB) ENSP00000383382.2:p.Asp135Glu
ENST00000431044.5:c.*1490C>A (SEPTIN5) ENSP00000399685.1:n.*1490C>A
NM_000407.4:c.405C>A , LRG_478t1:c.405C>A (GP1BB) NP_000398.1:p.Asp135Glu
NR_037611.1:n.4145C>A
NR_037612.1:n.2649C>A
NM_000407.5:c.405C>A (GP1BB) MANE Select NP_000398.1:p.Asp135Glu