Canonical Allele Identifier: CA030200
Gene: PARK7 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.7984971G>A
GRCh37 chr1:g.8045031G>A
Revel Score:
ENST00000338639 (MANE Select) 0.699
ENST00000493678 0.699
ENST00000377491 0.699
ENST00000377488 0.699
gnomAD v2:
1:8045031 G / A
gnomAD v3:
1:7984971 G / A
gnomAD v4:
chr1-7984971-G-A
Joint Max Group AF 0.00000183 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
dbSNP:
74315354
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7984971G>A , CM000663.2:g.7984971G>A GRCh38
NC_000001.10:g.8045031G>A , CM000663.1:g.8045031G>A GRCh37
NC_000001.9:g.7967618G>A NCBI36
NG_008271.1:g.28318G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000338639.10:c.487G>A MANE Select ENSP00000340278.5:p.Glu163Lys
ENST00000338639.9:c.487G>A ENSP00000340278.5:p.Glu163Lys
ENST00000377488.5:c.487G>A ENSP00000366708.1:p.Glu163Lys
ENST00000377491.5:c.487G>A ENSP00000366711.1:p.Glu163Lys
ENST00000377493.9:c.427G>A ENSP00000466242.1:p.Glu143Lys
ENST00000469225.1:c.400G>A ENSP00000466756.1:p.Glu134Lys
ENST00000493373.5:c.487G>A ENSP00000465404.1:p.Glu163Lys
ENST00000493678.5:c.487G>A ENSP00000418770.1:p.Glu163Lys
NM_001123377.1:c.487G>A NP_001116849.1:p.Glu163Lys
NM_007262.4:c.487G>A NP_009193.2:p.Glu163Lys
XM_005263424.2:c.487G>A XP_005263481.1:p.Glu163Lys
XM_005263424.3:c.487G>A XP_005263481.1:p.Glu163Lys
NM_007262.5:c.487G>A MANE Select NP_009193.2:p.Glu163Lys
NM_001123377.2:c.487G>A NP_001116849.1:p.Glu163Lys
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