Canonical Allele Identifier: CA410677379
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724238T>G , CM000684.2:g.19724238T>G GRCh38
NC_000022.10:g.19711761T>G , CM000684.1:g.19711761T>G GRCh37
NC_000022.9:g.18091761T>G NCBI36
NG_007974.1:g.5696T>G , LRG_478:g.5696T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.395T>G (GP1BB) MANE Select ENSP00000383382.2:p.Leu132Arg
ENST00000366425.3:c.395T>G (GP1BB) ENSP00000383382.2:p.Leu132Arg
ENST00000431044.5:c.*1480T>G (SEPTIN5) ENSP00000399685.1:n.*1480T>G
NM_000407.4:c.395T>G , LRG_478t1:c.395T>G (GP1BB) NP_000398.1:p.Leu132Arg
NR_037611.1:n.4135T>G
NR_037612.1:n.2639T>G
NM_000407.5:c.395T>G (GP1BB) MANE Select NP_000398.1:p.Leu132Arg