Canonical Allele Identifier: CA310123430
Gene: GP6 HGNC NCBI
GP6-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.55018667C>T
gnomAD v3:
19:55018667 C / T
gnomAD v4:
chr19-55018667-C-T
Joint Max Group AF 0.82579518 (NFE)
Genomes Max Group AF 0.83007977 (NFE)
Exomes Max Group AF 0.82605837 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55018667C>T , CM000681.2:g.55018667C>T GRCh38
NC_000019.8:g.60221847C>T NCBI36
NG_031963.2:g.24598G>A , LRG_560:g.24598G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310373.7:c.709G>A (GP6) ENSP00000308782.3:p.Glu237Lys
ENST00000333884.2:c.655G>A (GP6) ENSP00000334552.2:p.Glu219Lys
ENST00000417454.5:c.709G>A (GP6) MANE Select ENSP00000394922.1:p.Glu237Lys
ENST00000465648.1:n.153G>A (GP6)
NM_001083899.2:c.709G>A , LRG_560t3:c.709G>A (GP6) NP_001077368.2:p.Glu237Lys
NM_001256017.2:c.655G>A , LRG_560t2:c.655G>A (GP6) NP_001242946.2:p.Glu219Lys
NM_016363.5:c.709G>A , LRG_560t1:c.709G>A (GP6) MANE Select NP_057447.5:p.Glu237Lys
XR_001754012.2:n.312+12203C>T (GP6-AS1)
XR_001754013.2:n.305+12203C>T (GP6-AS1)
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