Canonical Allele Identifier: CA254098

Gene: PARK7

Linked Data

• ClinVar Variation Id: 7069
• ClinVar RCV Id: RCV000007485
• dbSNP Id: rs137853051
• MyVariant Identifiers: chr1:g.8025408G>T (hg19) ; chr1:g.7965348G>T (hg38)
• PubMed: PMID:16632486

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7965348G>T , CM000663.2:g.7965348G>T	GRCh38
NC_000001.10:g.8025408G>T , CM000663.1:g.8025408G>T	GRCh37
NC_000001.9:g.7947995G>T	NCBI36
NG_008271.1:g.8695G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000338639.10:c.115G>T MANE Select	ENSP00000340278.5:p.Ala39Ser
ENST00000338639.9:c.115G>T	ENSP00000340278.5:p.Ala39Ser
ENST00000377488.5:c.115G>T	ENSP00000366708.1:p.Ala39Ser
ENST00000377491.5:c.115G>T	ENSP00000366711.1:p.Ala39Ser
ENST00000377493.9:c.115G>T	ENSP00000466242.1:p.Ala39Ser
ENST00000460192.5:n.211G>T
ENST00000465354.5:n.184G>T
ENST00000493373.5:c.115G>T	ENSP00000465404.1:p.Ala39Ser
ENST00000493678.5:c.115G>T	ENSP00000418770.1:p.Ala39Ser
ENST00000497113.1:n.134G>T
NM_001123377.1:c.115G>T	NP_001116849.1:p.Ala39Ser
NM_007262.4:c.115G>T	NP_009193.2:p.Ala39Ser
XM_005263424.2:c.115G>T	XP_005263481.1:p.Ala39Ser
XM_005263424.3:c.115G>T	XP_005263481.1:p.Ala39Ser
NM_007262.5:c.115G>T MANE Select	NP_009193.2:p.Ala39Ser
NM_001123377.2:c.115G>T	NP_001116849.1:p.Ala39Ser