Canonical Allele Identifier: CA338167099

Gene: PARK7

Linked Data

• ClinVar Variation Id: 1119998
• ClinVar RCV Id: RCV001449624
• dbSNP Id: rs1472900688
• gnomAD v2: 1-8045004-A-G
• gnomAD v4: 1-7984944-A-G
• MyVariant Identifiers: chr1:g.8045004A>G (hg19) ; chr1:g.7984944A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7984944A>G , CM000663.2:g.7984944A>G	GRCh38
NC_000001.10:g.8045004A>G , CM000663.1:g.8045004A>G	GRCh37
NC_000001.9:g.7967591A>G	NCBI36
NG_008271.1:g.28291A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.460A>G MANE Select	ENSP00000340278.5:p.Thr154Ala
ENST00000338639.9:c.460A>G	ENSP00000340278.5:p.Thr154Ala
ENST00000377488.5:c.460A>G	ENSP00000366708.1:p.Thr154Ala
ENST00000377491.5:c.460A>G	ENSP00000366711.1:p.Thr154Ala
ENST00000377493.9:c.400A>G	ENSP00000466242.1:p.Thr134Ala
ENST00000469225.1:c.373A>G	ENSP00000466756.1:p.Thr125Ala
ENST00000493373.5:c.460A>G	ENSP00000465404.1:p.Thr154Ala
ENST00000493678.5:c.460A>G	ENSP00000418770.1:p.Thr154Ala
NM_001123377.1:c.460A>G	NP_001116849.1:p.Thr154Ala
NM_007262.4:c.460A>G	NP_009193.2:p.Thr154Ala
XM_005263424.2:c.460A>G	XP_005263481.1:p.Thr154Ala
XM_005263424.3:c.460A>G	XP_005263481.1:p.Thr154Ala
NM_007262.5:c.460A>G MANE Select	NP_009193.2:p.Thr154Ala
NM_001123377.2:c.460A>G	NP_001116849.1:p.Thr154Ala