Canonical Allele Identifier: CA2396008654
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724405G= , CM000684.2:g.19724405G= GRCh38
NC_000022.10:g.19711928G= , CM000684.1:g.19711928G= GRCh37
NC_000022.9:g.18091928G= NCBI36
NG_007974.1:g.5863G= , LRG_478:g.5863G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.562G= (GP1BB) MANE Select ENSP00000383382.2:p.Ala188=
ENST00000366425.3:c.562G= (GP1BB) ENSP00000383382.2:p.Ala188=
ENST00000431044.5:c.*1647G= (SEPTIN5) ENSP00000399685.1:n.*1647G=
NM_000407.4:c.562G= , LRG_478t1:c.562G= (GP1BB) NP_000398.1:p.Ala188=
NR_037611.1:n.4302G=
NR_037612.1:n.2806G=
NM_000407.5:c.562G= (GP1BB) MANE Select NP_000398.1:p.Ala188=