Canonical Allele Identifier: CA410676262
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19723883C>G , CM000684.2:g.19723883C>G GRCh38
NC_000022.10:g.19711406C>G , CM000684.1:g.19711406C>G GRCh37
NC_000022.9:g.18091406C>G NCBI36
NG_007974.1:g.5341C>G , LRG_478:g.5341C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.40C>G (GP1BB) MANE Select ENSP00000383382.2:p.Leu14Val
ENST00000366425.3:c.40C>G (GP1BB) ENSP00000383382.2:p.Leu14Val
ENST00000431044.5:c.*1125C>G (SEPTIN5) ENSP00000399685.1:n.*1125C>G
ENST00000455843.5:c.*1125C>G (SEPTIN5) ENSP00000391731.1:n.*1125C>G
ENST00000470814.1:n.2012C>G (SEPTIN5)
NM_000407.4:c.40C>G , LRG_478t1:c.40C>G (GP1BB) NP_000398.1:p.Leu14Val
NR_037611.1:n.3780C>G
NR_037612.1:n.2284C>G
NM_000407.5:c.40C>G (GP1BB) MANE Select NP_000398.1:p.Leu14Val