Canonical Allele Identifier: CA569617

Gene: PARK7

Linked Data

• ClinVar Variation Id: 779071
• ClinVar RCV Id: RCV001664576 ; RCV002548273
• dbSNP Id: rs143947415
• ExAC: 1:8044945 A / G
• gnomAD v2: 1-8044945-A-G
• gnomAD v3: 1-7984885-A-G
• gnomAD v4: 1-7984885-A-G
• MyVariant Identifiers: chr1:g.8044945A>G (hg19) ; chr1:g.7984885A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7984885A>G , CM000663.2:g.7984885A>G	GRCh38
NC_000001.10:g.8044945A>G , CM000663.1:g.8044945A>G	GRCh37
NC_000001.9:g.7967532A>G	NCBI36
NG_008271.1:g.28232A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.410-9A>G MANE Select	ENSP00000340278.5:n.410-9A>G
ENST00000338639.9:c.410-9A>G	ENSP00000340278.5:n.410-9A>G
ENST00000377488.5:c.410-9A>G	ENSP00000366708.1:n.410-9A>G
ENST00000377491.5:c.410-9A>G	ENSP00000366711.1:n.410-9A>G
ENST00000377493.9:c.350-9A>G	ENSP00000466242.1:n.350-9A>G
ENST00000469225.1:c.314A>G	ENSP00000466756.1:p.Tyr105Cys
ENST00000493373.5:c.410-9A>G	ENSP00000465404.1:n.410-9A>G
ENST00000493678.5:c.410-9A>G	ENSP00000418770.1:n.410-9A>G
NM_001123377.1:c.410-9A>G	NP_001116849.1:n.410-9A>G
NM_007262.4:c.410-9A>G	NP_009193.2:n.410-9A>G
XM_005263424.2:c.410-9A>G	XP_005263481.1:n.410-9A>G
XM_005263424.3:c.410-9A>G	XP_005263481.1:n.410-9A>G
NM_007262.5:c.410-9A>G MANE Select	NP_009193.2:n.410-9A>G
NM_001123377.2:c.410-9A>G	NP_001116849.1:n.410-9A>G