Canonical Allele Identifier: CA410677528
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1684331
ClinVar RCV Id: RCV002245337
dbSNP Id: rs1398239892
gnomAD v2: 22-19711811-G-A
gnomAD v4: 22-19724288-G-A
MyVariant Identifiers: chr22:g.19711811G>A (hg19) chr22:g.19724288G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724288G>A , CM000684.2:g.19724288G>A GRCh38
NC_000022.10:g.19711811G>A , CM000684.1:g.19711811G>A GRCh37
NC_000022.9:g.18091811G>A NCBI36
NG_007974.1:g.5746G>A , LRG_478:g.5746G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.445G>A (GP1BB) MANE Select ENSP00000383382.2:p.Gly149Arg
ENST00000366425.3:c.445G>A (GP1BB) ENSP00000383382.2:p.Gly149Arg
ENST00000431044.5:c.*1530G>A (SEPTIN5) ENSP00000399685.1:n.*1530G>A
NM_000407.4:c.445G>A , LRG_478t1:c.445G>A (GP1BB) NP_000398.1:p.Gly149Arg
NR_037611.1:n.4185G>A
NR_037612.1:n.2689G>A
NM_000407.5:c.445G>A (GP1BB) MANE Select NP_000398.1:p.Gly149Arg
Search 100 bp 5'
Search 100 bp 3'