Canonical Allele Identifier: CA521019998

Gene: PARK7

Linked Data

• dbSNP Id: rs1247179081
• gnomAD v2: 1-8045153-T-G
• gnomAD v4: 1-7985093-T-G
• MyVariant Identifiers: chr1:g.8045153T>G (hg19) ; chr1:g.7985093T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7985093T>G , CM000663.2:g.7985093T>G	GRCh38
NC_000001.10:g.8045153T>G , CM000663.1:g.8045153T>G	GRCh37
NC_000001.9:g.7967740T>G	NCBI36
NG_008271.1:g.28440T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.*39T>G MANE Select	ENSP00000340278.5:n.*39T>G
ENST00000338639.9:c.*39T>G	ENSP00000340278.5:n.*39T>G
ENST00000377488.5:c.*39T>G	ENSP00000366708.1:n.*39T>G
ENST00000377491.5:c.*39T>G	ENSP00000366711.1:n.*39T>G
ENST00000377493.9:c.*39T>G	ENSP00000466242.1:n.*39T>G
ENST00000469225.1:c.522T>G	ENSP00000466756.1:n.522T>G
ENST00000493678.5:c.*39T>G	ENSP00000418770.1:n.*39T>G
NM_001123377.1:c.*39T>G	NP_001116849.1:n.*39T>G
NM_007262.4:c.*39T>G	NP_009193.2:n.*39T>G
XM_005263424.2:c.*39T>G	XP_005263481.1:n.*39T>G
XM_005263424.3:c.*39T>G	XP_005263481.1:n.*39T>G
NM_007262.5:c.*39T>G MANE Select	NP_009193.2:n.*39T>G
NM_001123377.2:c.*39T>G	NP_001116849.1:n.*39T>G