Canonical Allele Identifier: CA410676273
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 627320
ClinVar RCV Id: RCV000852142 RCV001003916 RCV002222630 RCV003324792
dbSNP Id: rs1601248210
gnomAD v4: 22-19723890-T-C
MyVariant Identifiers: chr22:g.19711413T>C (hg19) chr22:g.19723890T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19723890T>C , CM000684.2:g.19723890T>C GRCh38
NC_000022.10:g.19711413T>C , CM000684.1:g.19711413T>C GRCh37
NC_000022.9:g.18091413T>C NCBI36
NG_007974.1:g.5348T>C , LRG_478:g.5348T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.47T>C (GP1BB) MANE Select ENSP00000383382.2:p.Leu16Pro
ENST00000366425.3:c.47T>C (GP1BB) ENSP00000383382.2:p.Leu16Pro
ENST00000431044.5:c.*1132T>C (SEPTIN5) ENSP00000399685.1:n.*1132T>C
ENST00000455843.5:c.*1132T>C (SEPTIN5) ENSP00000391731.1:n.*1132T>C
ENST00000470814.1:n.2019T>C (SEPTIN5)
NM_000407.4:c.47T>C , LRG_478t1:c.47T>C (GP1BB) NP_000398.1:p.Leu16Pro
NR_037611.1:n.3787T>C
NR_037612.1:n.2291T>C
NM_000407.5:c.47T>C (GP1BB) MANE Select NP_000398.1:p.Leu16Pro
Search 100 bp 5'
Search 100 bp 3'