Canonical Allele Identifier: CA322079798
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 843687
ClinVar RCV Id: RCV001046363
dbSNP Id: rs77761572

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19723955G>C , CM000684.2:g.19723955G>C GRCh38
NC_000022.10:g.19711478G>C , CM000684.1:g.19711478G>C GRCh37
NC_000022.9:g.18091478G>C NCBI36
NG_007974.1:g.5413G>C , LRG_478:g.5413G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.112G>C (GP1BB) MANE Select ENSP00000383382.2:p.Asp38His
ENST00000366425.3:c.112G>C (GP1BB) ENSP00000383382.2:p.Asp38His
ENST00000431044.5:c.*1197G>C (SEPTIN5) ENSP00000399685.1:n.*1197G>C
ENST00000455843.5:c.*1197G>C (SEPTIN5) ENSP00000391731.1:n.*1197G>C
ENST00000470814.1:n.2084G>C (SEPTIN5)
NM_000407.4:c.112G>C , LRG_478t1:c.112G>C (GP1BB) NP_000398.1:p.Asp38His
NR_037611.1:n.3852G>C
NR_037612.1:n.2356G>C
NM_000407.5:c.112G>C (GP1BB) MANE Select NP_000398.1:p.Asp38His