Canonical Allele Identifier: CA310130099
Gene: GP6 HGNC NCBI
GP6-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.55027693A>G
gnomAD v3:
19:55027693 A / G
gnomAD v4:
chr19-55027693-A-G
Joint Max Group AF 0.81614826 (NFE)
Genomes Max Group AF 0.82055306 (NFE)
Exomes Max Group AF 0.81886849 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55027693A>G , CM000681.2:g.55027693A>G GRCh38
NC_000019.8:g.60230873A>G NCBI36
NG_031963.2:g.15572T>C , LRG_560:g.15572T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000310373.7:c.495T>C (GP6) ENSP00000308782.3:p.Phe165=
ENST00000333884.2:c.495T>C (GP6) ENSP00000334552.2:p.Phe165=
ENST00000417454.5:c.495T>C (GP6) MANE Select ENSP00000394922.1:p.Phe165=
ENST00000468239.1:c.264T>C (GP6) ENSP00000464922.1:p.Phe88=
NM_001083899.2:c.495T>C , LRG_560t3:c.495T>C (GP6) NP_001077368.2:p.Phe165=
NM_001256017.2:c.495T>C , LRG_560t2:c.495T>C (GP6) NP_001242946.2:p.Phe165=
NM_016363.5:c.495T>C , LRG_560t1:c.495T>C (GP6) MANE Select NP_057447.5:p.Phe165=
XR_001754012.2:n.313-15107A>G (GP6-AS1)
XR_001754013.2:n.306-15107A>G (GP6-AS1)
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