Canonical Allele Identifier: CA410677524
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1691232
ClinVar RCV Id: RCV002254218
dbSNP Id: rs1375840544
gnomAD v4: 22-19724286-G-A
MyVariant Identifiers: chr22:g.19711809G>A (hg19) chr22:g.19724286G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724286G>A , CM000684.2:g.19724286G>A GRCh38
NC_000022.10:g.19711809G>A , CM000684.1:g.19711809G>A GRCh37
NC_000022.9:g.18091809G>A NCBI36
NG_007974.1:g.5744G>A , LRG_478:g.5744G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.443G>A (GP1BB) MANE Select ENSP00000383382.2:p.Trp148Ter
ENST00000366425.3:c.443G>A (GP1BB) ENSP00000383382.2:p.Trp148Ter
ENST00000431044.5:c.*1528G>A (SEPTIN5) ENSP00000399685.1:n.*1528G>A
NM_000407.4:c.443G>A , LRG_478t1:c.443G>A (GP1BB) NP_000398.1:p.Trp148Ter
NR_037611.1:n.4183G>A
NR_037612.1:n.2687G>A
NM_000407.5:c.443G>A (GP1BB) MANE Select NP_000398.1:p.Trp148Ter
Search 100 bp 5'
Search 100 bp 3'