Canonical Allele Identifier: CA410677295
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

dbSNP Id: rs1224690507

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.368C>T (GP1BB) MANE Select ENSP00000383382.2:p.Ala123Val
ENST00000366425.3:c.368C>T (GP1BB) ENSP00000383382.2:p.Ala123Val
ENST00000431044.5:c.*1453C>T (SEPTIN5) ENSP00000399685.1:n.*1453C>T
ENST00000455843.5:c.*1453C>T (SEPTIN5) ENSP00000391731.1:n.*1453C>T
ENST00000470814.1:n.2340C>T (SEPTIN5)
NM_000407.4:c.368C>T , LRG_478t1:c.368C>T (GP1BB) NP_000398.1:p.Ala123Val
NR_037611.1:n.4108C>T
NR_037612.1:n.2612C>T
NM_000407.5:c.368C>T (GP1BB) MANE Select NP_000398.1:p.Ala123Val