Canonical Allele Identifier: CA126156
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 16039
ClinVar RCV Id: RCV000017414
dbSNP Id: rs121909751

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724240G>C , CM000684.2:g.19724240G>C GRCh38
NC_000022.10:g.19711763G>C , CM000684.1:g.19711763G>C GRCh37
NC_000022.9:g.18091763G>C NCBI36
NG_007974.1:g.5698G>C , LRG_478:g.5698G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000366425.4:c.397G>C (GP1BB) MANE Select ENSP00000383382.2:p.Ala133Pro
ENST00000366425.3:c.397G>C (GP1BB) ENSP00000383382.2:p.Ala133Pro
ENST00000431044.5:c.*1482G>C (SEPTIN5) ENSP00000399685.1:n.*1482G>C
NM_000407.4:c.397G>C , LRG_478t1:c.397G>C (GP1BB) NP_000398.1:p.Ala133Pro
NR_037611.1:n.4137G>C
NR_037612.1:n.2641G>C
NM_000407.5:c.397G>C (GP1BB) MANE Select NP_000398.1:p.Ala133Pro