Canonical Allele Identifier: CA2396008406
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19723954G= , CM000684.2:g.19723954G= GRCh38
NC_000022.10:g.19711477G= , CM000684.1:g.19711477G= GRCh37
NC_000022.9:g.18091477G= NCBI36
NG_007974.1:g.5412G= , LRG_478:g.5412G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.111G= (GP1BB) MANE Select ENSP00000383382.2:p.Val37=
ENST00000366425.3:c.111G= (GP1BB) ENSP00000383382.2:p.Val37=
ENST00000431044.5:c.*1196G= (SEPTIN5) ENSP00000399685.1:n.*1196G=
ENST00000455843.5:c.*1196G= (SEPTIN5) ENSP00000391731.1:n.*1196G=
ENST00000470814.1:n.2083G= (SEPTIN5)
NM_000407.4:c.111G= , LRG_478t1:c.111G= (GP1BB) NP_000398.1:p.Val37=
NR_037611.1:n.3851G=
NR_037612.1:n.2355G=
NM_000407.5:c.111G= (GP1BB) MANE Select NP_000398.1:p.Val37=