Canonical Allele Identifier: CA410677465
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2557864
ClinVar RCV Id: RCV004327387
dbSNP Id: rs1936119557
gnomAD v4: 22-19724261-G-T
MyVariant Identifiers: chr22:g.19711784G>T (hg19) chr22:g.19724261G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724261G>T , CM000684.2:g.19724261G>T GRCh38
NC_000022.10:g.19711784G>T , CM000684.1:g.19711784G>T GRCh37
NC_000022.9:g.18091784G>T NCBI36
NG_007974.1:g.5719G>T , LRG_478:g.5719G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.418G>T (GP1BB) MANE Select ENSP00000383382.2:p.Ala140Ser
ENST00000366425.3:c.418G>T (GP1BB) ENSP00000383382.2:p.Ala140Ser
ENST00000431044.5:c.*1503G>T (SEPTIN5) ENSP00000399685.1:n.*1503G>T
NM_000407.4:c.418G>T , LRG_478t1:c.418G>T (GP1BB) NP_000398.1:p.Ala140Ser
NR_037611.1:n.4158G>T
NR_037612.1:n.2662G>T
NM_000407.5:c.418G>T (GP1BB) MANE Select NP_000398.1:p.Ala140Ser
Search 100 bp 5'
Search 100 bp 3'