Canonical Allele Identifier: CA254090
Gene: PARK7 HGNC NCBI

Linked Data

ClinVar Variation Id: 7064
ClinVar RCV Id: RCV000007480
dbSNP Id: rs28938172
MyVariant Identifiers: chr1:g.8045041T>C (hg19) chr1:g.7984981T>C (hg38)
PubMed: PMID:12446870 PMID:20639397 PMID:22492997
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7984981T>C , CM000663.2:g.7984981T>C GRCh38
NC_000001.10:g.8045041T>C , CM000663.1:g.8045041T>C GRCh37
NC_000001.9:g.7967628T>C NCBI36
NG_008271.1:g.28328T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000338639.10:c.497T>C MANE Select ENSP00000340278.5:p.Leu166Pro
ENST00000338639.9:c.497T>C ENSP00000340278.5:p.Leu166Pro
ENST00000377488.5:c.497T>C ENSP00000366708.1:p.Leu166Pro
ENST00000377491.5:c.497T>C ENSP00000366711.1:p.Leu166Pro
ENST00000377493.9:c.437T>C ENSP00000466242.1:p.Leu146Pro
ENST00000469225.1:c.410T>C ENSP00000466756.1:p.Leu137Pro
ENST00000493373.5:c.497T>C ENSP00000465404.1:p.Leu166Pro
ENST00000493678.5:c.497T>C ENSP00000418770.1:p.Leu166Pro
NM_001123377.1:c.497T>C NP_001116849.1:p.Leu166Pro
NM_007262.4:c.497T>C NP_009193.2:p.Leu166Pro
XM_005263424.2:c.497T>C XP_005263481.1:p.Leu166Pro
XM_005263424.3:c.497T>C XP_005263481.1:p.Leu166Pro
NM_007262.5:c.497T>C MANE Select NP_009193.2:p.Leu166Pro
NM_001123377.2:c.497T>C NP_001116849.1:p.Leu166Pro
Search 100 bp 5'
Search 100 bp 3'