Canonical Allele Identifier: CA322080173
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

dbSNP Id: rs776348459
gnomAD v3: 22-19724441-C-A
gnomAD v4: 22-19724441-C-A
MyVariant Identifiers: chr22:g.19711964C>A (hg19) chr22:g.19724441C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724441C>A , CM000684.2:g.19724441C>A GRCh38
NC_000022.10:g.19711964C>A , CM000684.1:g.19711964C>A GRCh37
NC_000022.9:g.18091964C>A NCBI36
NG_007974.1:g.5899C>A , LRG_478:g.5899C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.598C>A (GP1BB) MANE Select ENSP00000383382.2:p.Arg200=
ENST00000366425.3:c.598C>A (GP1BB) ENSP00000383382.2:p.Arg200=
ENST00000431044.5:c.*1683C>A (SEPTIN5) ENSP00000399685.1:n.*1683C>A
NM_000407.4:c.598C>A , LRG_478t1:c.598C>A (GP1BB) NP_000398.1:p.Arg200=
NR_037611.1:n.4338C>A
NR_037612.1:n.2842C>A
NM_000407.5:c.598C>A (GP1BB) MANE Select NP_000398.1:p.Arg200=
Search 100 bp 5'
Search 100 bp 3'