Canonical Allele Identifier: CA569636

Gene: PARK7

Linked Data

• ClinVar Variation Id: 2055014
• ClinVar RCV Id: RCV002909932
• dbSNP Id: rs371514726
• ExAC: 1:8045038 C / T
• gnomAD v2: 1-8045038-C-T
• gnomAD v3: 1-7984978-C-T
• gnomAD v4: 1-7984978-C-T
• COSMIC: COSM4166723
• MyVariant Identifiers: chr1:g.8045038C>T (hg19) ; chr1:g.7984978C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7984978C>T , CM000663.2:g.7984978C>T	GRCh38
NC_000001.10:g.8045038C>T , CM000663.1:g.8045038C>T	GRCh37
NC_000001.9:g.7967625C>T	NCBI36
NG_008271.1:g.28325C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.494C>T MANE Select	ENSP00000340278.5:p.Ala165Val
ENST00000338639.9:c.494C>T	ENSP00000340278.5:p.Ala165Val
ENST00000377488.5:c.494C>T	ENSP00000366708.1:p.Ala165Val
ENST00000377491.5:c.494C>T	ENSP00000366711.1:p.Ala165Val
ENST00000377493.9:c.434C>T	ENSP00000466242.1:p.Ala145Val
ENST00000469225.1:c.407C>T	ENSP00000466756.1:p.Ala136Val
ENST00000493373.5:c.494C>T	ENSP00000465404.1:p.Ala165Val
ENST00000493678.5:c.494C>T	ENSP00000418770.1:p.Ala165Val
NM_001123377.1:c.494C>T	NP_001116849.1:p.Ala165Val
NM_007262.4:c.494C>T	NP_009193.2:p.Ala165Val
XM_005263424.2:c.494C>T	XP_005263481.1:p.Ala165Val
XM_005263424.3:c.494C>T	XP_005263481.1:p.Ala165Val
NM_007262.5:c.494C>T MANE Select	NP_009193.2:p.Ala165Val
NM_001123377.2:c.494C>T	NP_001116849.1:p.Ala165Val