Canonical Allele Identifier: CA569548

Gene: PARK7

Linked Data

• ClinVar Variation Id: 465831
• ClinVar RCV Id: RCV000529085 ; RCV001083472 ; RCV001258287 ; RCV001579430 ; RCV003925652
• dbSNP Id: rs71653619
• ExAC: 1:8030994 G / A
• gnomAD v2: 1-8030994-G-A
• gnomAD v3: 1-7970934-G-A
• gnomAD v4: 1-7970934-G-A
• MyVariant Identifiers: chr1:g.8030994G>A (hg19) ; chr1:g.7970934G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7970934G>A , CM000663.2:g.7970934G>A	GRCh38
NC_000001.10:g.8030994G>A , CM000663.1:g.8030994G>A	GRCh37
NC_000001.9:g.7953581G>A	NCBI36
NG_008271.1:g.14281G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000338639.10:c.293G>A MANE Select	ENSP00000340278.5:p.Arg98Gln
ENST00000338639.9:c.293G>A	ENSP00000340278.5:p.Arg98Gln
ENST00000377488.5:c.293G>A	ENSP00000366708.1:p.Arg98Gln
ENST00000377491.5:c.293G>A	ENSP00000366711.1:p.Arg98Gln
ENST00000377493.9:c.233G>A	ENSP00000466242.1:p.Arg78Gln
ENST00000460192.5:n.453G>A
ENST00000465354.5:n.362G>A
ENST00000469225.1:c.176G>A	ENSP00000466756.1:p.Arg59Gln
ENST00000493373.5:c.293G>A	ENSP00000465404.1:p.Arg98Gln
ENST00000493678.5:c.293G>A	ENSP00000418770.1:p.Arg98Gln
ENST00000497113.1:n.312G>A
NM_001123377.1:c.293G>A	NP_001116849.1:p.Arg98Gln
NM_007262.4:c.293G>A	NP_009193.2:p.Arg98Gln
XM_005263424.2:c.293G>A	XP_005263481.1:p.Arg98Gln
XM_005263424.3:c.293G>A	XP_005263481.1:p.Arg98Gln
NM_007262.5:c.293G>A MANE Select	NP_009193.2:p.Arg98Gln
NM_001123377.2:c.293G>A	NP_001116849.1:p.Arg98Gln