Canonical Allele Identifier: CA410676243
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19723874T>A , CM000684.2:g.19723874T>A GRCh38
NC_000022.10:g.19711397T>A , CM000684.1:g.19711397T>A GRCh37
NC_000022.9:g.18091397T>A NCBI36
NG_007974.1:g.5332T>A , LRG_478:g.5332T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.31T>A (GP1BB) MANE Select ENSP00000383382.2:p.Leu11Ile
ENST00000366425.3:c.31T>A (GP1BB) ENSP00000383382.2:p.Leu11Ile
ENST00000431044.5:c.*1116T>A (SEPTIN5) ENSP00000399685.1:n.*1116T>A
ENST00000455843.5:c.*1116T>A (SEPTIN5) ENSP00000391731.1:n.*1116T>A
ENST00000470814.1:n.2003T>A (SEPTIN5)
NM_000407.4:c.31T>A , LRG_478t1:c.31T>A (GP1BB) NP_000398.1:p.Leu11Ile
NR_037611.1:n.3771T>A
NR_037612.1:n.2275T>A
NM_000407.5:c.31T>A (GP1BB) MANE Select NP_000398.1:p.Leu11Ile