Canonical Allele Identifier: CA410677697
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2377515
ClinVar RCV Id: RCV004215848
dbSNP Id: rs2145796628
MyVariant Identifiers: chr22:g.19711899T>G (hg19) chr22:g.19724376T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724376T>G , CM000684.2:g.19724376T>G GRCh38
NC_000022.10:g.19711899T>G , CM000684.1:g.19711899T>G GRCh37
NC_000022.9:g.18091899T>G NCBI36
NG_007974.1:g.5834T>G , LRG_478:g.5834T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.533T>G (GP1BB) MANE Select ENSP00000383382.2:p.Leu178Arg
ENST00000366425.3:c.533T>G (GP1BB) ENSP00000383382.2:p.Leu178Arg
ENST00000431044.5:c.*1618T>G (SEPTIN5) ENSP00000399685.1:n.*1618T>G
NM_000407.4:c.533T>G , LRG_478t1:c.533T>G (GP1BB) NP_000398.1:p.Leu178Arg
NR_037611.1:n.4273T>G
NR_037612.1:n.2777T>G
NM_000407.5:c.533T>G (GP1BB) MANE Select NP_000398.1:p.Leu178Arg
Search 100 bp 5'
Search 100 bp 3'