Canonical Allele Identifier: CA2396008641
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724390C= , CM000684.2:g.19724390C= GRCh38
NC_000022.10:g.19711913C= , CM000684.1:g.19711913C= GRCh37
NC_000022.9:g.18091913C= NCBI36
NG_007974.1:g.5848C= , LRG_478:g.5848C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.547C= (GP1BB) MANE Select ENSP00000383382.2:p.Arg183=
ENST00000366425.3:c.547C= (GP1BB) ENSP00000383382.2:p.Arg183=
ENST00000431044.5:c.*1632C= (SEPTIN5) ENSP00000399685.1:n.*1632C=
NM_000407.4:c.547C= , LRG_478t1:c.547C= (GP1BB) NP_000398.1:p.Arg183=
NR_037611.1:n.4287C=
NR_037612.1:n.2791C=
NM_000407.5:c.547C= (GP1BB) MANE Select NP_000398.1:p.Arg183=