Canonical Allele Identifier: CA322080125
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1320932
ClinVar RCV Id: RCV001776911
dbSNP Id: rs542853528
gnomAD v2: 22-19711910-G-A
gnomAD v3: 22-19724387-G-A
gnomAD v4: 22-19724387-G-A
MyVariant Identifiers: chr22:g.19711910G>A (hg19) chr22:g.19724387G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724387G>A , CM000684.2:g.19724387G>A GRCh38
NC_000022.10:g.19711910G>A , CM000684.1:g.19711910G>A GRCh37
NC_000022.9:g.18091910G>A NCBI36
NG_007974.1:g.5845G>A , LRG_478:g.5845G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.544G>A (GP1BB) MANE Select ENSP00000383382.2:p.Ala182Thr
ENST00000366425.3:c.544G>A (GP1BB) ENSP00000383382.2:p.Ala182Thr
ENST00000431044.5:c.*1629G>A (SEPTIN5) ENSP00000399685.1:n.*1629G>A
NM_000407.4:c.544G>A , LRG_478t1:c.544G>A (GP1BB) NP_000398.1:p.Ala182Thr
NR_037611.1:n.4284G>A
NR_037612.1:n.2788G>A
NM_000407.5:c.544G>A (GP1BB) MANE Select NP_000398.1:p.Ala182Thr
Search 100 bp 5'
Search 100 bp 3'