Canonical Allele Identifier: CA2396008701
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724474C= , CM000684.2:g.19724474C= GRCh38
NC_000022.10:g.19711997C= , CM000684.1:g.19711997C= GRCh37
NC_000022.9:g.18091997C= NCBI36
NG_007974.1:g.5932C= , LRG_478:g.5932C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.*10C= (GP1BB) MANE Select ENSP00000383382.2:n.*10C=
ENST00000366425.3:c.*10C= (GP1BB) ENSP00000383382.2:n.*10C=
ENST00000431044.5:c.*1716C= (SEPTIN5) ENSP00000399685.1:n.*1716C=
NM_000407.4:c.*10C= , LRG_478t1:c.*10C= (GP1BB) NP_000398.1:n.*10C=
NR_037611.1:n.4371C=
NR_037612.1:n.2875C=
NM_000407.5:c.*10C= (GP1BB) MANE Select NP_000398.1:n.*10C=