Canonical Allele Identifier: CA410677534
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 3101041
ClinVar RCV Id: RCV004387899
dbSNP Id: rs1295165100
gnomAD v2: 22-19711814-G-A
gnomAD v3: 22-19724291-G-A
gnomAD v4: 22-19724291-G-A
MyVariant Identifiers: chr22:g.19711814G>A (hg19) chr22:g.19724291G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724291G>A , CM000684.2:g.19724291G>A GRCh38
NC_000022.10:g.19711814G>A , CM000684.1:g.19711814G>A GRCh37
NC_000022.9:g.18091814G>A NCBI36
NG_007974.1:g.5749G>A , LRG_478:g.5749G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.448G>A (GP1BB) MANE Select ENSP00000383382.2:p.Ala150Thr
ENST00000366425.3:c.448G>A (GP1BB) ENSP00000383382.2:p.Ala150Thr
ENST00000431044.5:c.*1533G>A (SEPTIN5) ENSP00000399685.1:n.*1533G>A
NM_000407.4:c.448G>A , LRG_478t1:c.448G>A (GP1BB) NP_000398.1:p.Ala150Thr
NR_037611.1:n.4188G>A
NR_037612.1:n.2692G>A
NM_000407.5:c.448G>A (GP1BB) MANE Select NP_000398.1:p.Ala150Thr
Search 100 bp 5'
Search 100 bp 3'