Canonical Allele Identifier: CA410677292
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724211C>A , CM000684.2:g.19724211C>A GRCh38
NC_000022.10:g.19711734C>A , CM000684.1:g.19711734C>A GRCh37
NC_000022.9:g.18091734C>A NCBI36
NG_007974.1:g.5669C>A , LRG_478:g.5669C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.368C>A (GP1BB) MANE Select ENSP00000383382.2:p.Ala123Glu
ENST00000366425.3:c.368C>A (GP1BB) ENSP00000383382.2:p.Ala123Glu
ENST00000431044.5:c.*1453C>A (SEPTIN5) ENSP00000399685.1:n.*1453C>A
ENST00000455843.5:c.*1453C>A (SEPTIN5) ENSP00000391731.1:n.*1453C>A
ENST00000470814.1:n.2340C>A (SEPTIN5)
NM_000407.4:c.368C>A , LRG_478t1:c.368C>A (GP1BB) NP_000398.1:p.Ala123Glu
NR_037611.1:n.4108C>A
NR_037612.1:n.2612C>A
NM_000407.5:c.368C>A (GP1BB) MANE Select NP_000398.1:p.Ala123Glu