Canonical Allele Identifier: CA338167189

Gene: PARK7

Linked Data

• ClinVar Variation Id: 1256194
• ClinVar RCV Id: RCV001663536
• dbSNP Id: rs2124006611
• MyVariant Identifiers: chr1:g.8045049G>T (hg19) ; chr1:g.7984989G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7984989G>T , CM000663.2:g.7984989G>T	GRCh38
NC_000001.10:g.8045049G>T , CM000663.1:g.8045049G>T	GRCh37
NC_000001.9:g.7967636G>T	NCBI36
NG_008271.1:g.28336G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.505G>T MANE Select	ENSP00000340278.5:p.Val169Phe
ENST00000338639.9:c.505G>T	ENSP00000340278.5:p.Val169Phe
ENST00000377488.5:c.505G>T	ENSP00000366708.1:p.Val169Phe
ENST00000377491.5:c.505G>T	ENSP00000366711.1:p.Val169Phe
ENST00000377493.9:c.445G>T	ENSP00000466242.1:p.Val149Phe
ENST00000469225.1:c.418G>T	ENSP00000466756.1:p.Val140Phe
ENST00000493373.5:c.505G>T	ENSP00000465404.1:p.Val169Phe
ENST00000493678.5:c.505G>T	ENSP00000418770.1:p.Val169Phe
NM_001123377.1:c.505G>T	NP_001116849.1:p.Val169Phe
NM_007262.4:c.505G>T	NP_009193.2:p.Val169Phe
XM_005263424.2:c.505G>T	XP_005263481.1:p.Val169Phe
XM_005263424.3:c.505G>T	XP_005263481.1:p.Val169Phe
NM_007262.5:c.505G>T MANE Select	NP_009193.2:p.Val169Phe
NM_001123377.2:c.505G>T	NP_001116849.1:p.Val169Phe