Canonical Allele Identifier: CA410677400
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1679421
ClinVar RCV Id: RCV002227301
dbSNP Id: rs2145796377
gnomAD v4: 22-19724243-G-A
MyVariant Identifiers: chr22:g.19711766G>A (hg19) chr22:g.19724243G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724243G>A , CM000684.2:g.19724243G>A GRCh38
NC_000022.10:g.19711766G>A , CM000684.1:g.19711766G>A GRCh37
NC_000022.9:g.18091766G>A NCBI36
NG_007974.1:g.5701G>A , LRG_478:g.5701G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.400G>A (GP1BB) MANE Select ENSP00000383382.2:p.Glu134Lys
ENST00000366425.3:c.400G>A (GP1BB) ENSP00000383382.2:p.Glu134Lys
ENST00000431044.5:c.*1485G>A (SEPTIN5) ENSP00000399685.1:n.*1485G>A
NM_000407.4:c.400G>A , LRG_478t1:c.400G>A (GP1BB) NP_000398.1:p.Glu134Lys
NR_037611.1:n.4140G>A
NR_037612.1:n.2644G>A
NM_000407.5:c.400G>A (GP1BB) MANE Select NP_000398.1:p.Glu134Lys
Search 100 bp 5'
Search 100 bp 3'