Canonical Allele Identifier: CA322079742
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 3031447
ClinVar RCV Id: RCV003897040
dbSNP Id: rs527896903
gnomAD v3: 22-19723867-G-T
gnomAD v4: 22-19723867-G-T
MyVariant Identifiers: chr22:g.19711390G>T (hg19) chr22:g.19723867G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19723867G>T , CM000684.2:g.19723867G>T GRCh38
NC_000022.10:g.19711390G>T , CM000684.1:g.19711390G>T GRCh37
NC_000022.9:g.18091390G>T NCBI36
NG_007974.1:g.5325G>T , LRG_478:g.5325G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.24G>T (GP1BB) MANE Select ENSP00000383382.2:p.Ala8=
ENST00000366425.3:c.24G>T (GP1BB) ENSP00000383382.2:p.Ala8=
ENST00000431044.5:c.*1109G>T (SEPTIN5) ENSP00000399685.1:n.*1109G>T
ENST00000455843.5:c.*1109G>T (SEPTIN5) ENSP00000391731.1:n.*1109G>T
ENST00000470814.1:n.1996G>T (SEPTIN5)
NM_000407.4:c.24G>T , LRG_478t1:c.24G>T (GP1BB) NP_000398.1:p.Ala8=
NR_037611.1:n.3764G>T
NR_037612.1:n.2268G>T
NM_000407.5:c.24G>T (GP1BB) MANE Select NP_000398.1:p.Ala8=
Search 100 bp 5'
Search 100 bp 3'