Canonical Allele Identifier: CA410677453
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724258G>A , CM000684.2:g.19724258G>A GRCh38
NC_000022.10:g.19711781G>A , CM000684.1:g.19711781G>A GRCh37
NC_000022.9:g.18091781G>A NCBI36
NG_007974.1:g.5716G>A , LRG_478:g.5716G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.415G>A (GP1BB) MANE Select ENSP00000383382.2:p.Ala139Thr
ENST00000366425.3:c.415G>A (GP1BB) ENSP00000383382.2:p.Ala139Thr
ENST00000431044.5:c.*1500G>A (SEPTIN5) ENSP00000399685.1:n.*1500G>A
NM_000407.4:c.415G>A , LRG_478t1:c.415G>A (GP1BB) NP_000398.1:p.Ala139Thr
NR_037611.1:n.4155G>A
NR_037612.1:n.2659G>A
NM_000407.5:c.415G>A (GP1BB) MANE Select NP_000398.1:p.Ala139Thr