Canonical Allele Identifier: CA310130021
Gene: GP6 HGNC NCBI
GP6-AS1 HGNC NCBI
COSMIC:
COSM1396470 (not active)
MyVariant.info:
GRCh38 chr19:g.55027612T>C
gnomAD v3:
19:55027612 T / C
gnomAD v4:
chr19-55027612-T-C
Joint Max Group AF 0.97308327 (EAS)
Genomes Max Group AF 0.95806581 (AFR)
Exomes Max Group AF 0.97324129 (EAS)
ClinVar Allele:
257223
ClinVar RCV:
RCV000250060
RCV001683006
RCV001701960
ClinVar Variation:
257421
dbSNP:
1654425
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55027612T>C , CM000681.2:g.55027612T>C GRCh38
NC_000019.8:g.60230792T>C NCBI36
NG_031963.2:g.15653A>G , LRG_560:g.15653A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000310373.7:c.576A>G (GP6) ENSP00000308782.3:p.Ser192=
ENST00000333884.2:c.576A>G (GP6) ENSP00000334552.2:p.Ser192=
ENST00000417454.5:c.576A>G (GP6) MANE Select ENSP00000394922.1:p.Ser192=
ENST00000468239.1:c.345A>G (GP6) ENSP00000464922.1:p.Ser115=
NM_001083899.2:c.576A>G , LRG_560t3:c.576A>G (GP6) NP_001077368.2:p.Ser192=
NM_001256017.2:c.576A>G , LRG_560t2:c.576A>G (GP6) NP_001242946.2:p.Ser192=
NM_016363.5:c.576A>G , LRG_560t1:c.576A>G (GP6) MANE Select NP_057447.5:p.Ser192=
XR_001754012.2:n.313-15188T>C (GP6-AS1)
XR_001754013.2:n.306-15188T>C (GP6-AS1)
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