Canonical Allele Identifier: CA267229

Gene: PARK7

Linked Data

• ClinVar Variation Id: 96726
• ClinVar RCV Id: RCV000082873
• dbSNP Id: rs398124657
• MyVariant Identifiers: chr1:g.8037788G>C (hg19) ; chr1:g.7977728G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7977728G>C , CM000663.2:g.7977728G>C	GRCh38
NC_000001.10:g.8037788G>C , CM000663.1:g.8037788G>C	GRCh37
NC_000001.9:g.7960375G>C	NCBI36
NG_008271.1:g.21075G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.399G>C MANE Select	ENSP00000340278.5:p.Met133Ile
ENST00000338639.9:c.399G>C	ENSP00000340278.5:p.Met133Ile
ENST00000377488.5:c.399G>C	ENSP00000366708.1:p.Met133Ile
ENST00000377491.5:c.399G>C	ENSP00000366711.1:p.Met133Ile
ENST00000377493.9:c.339G>C	ENSP00000466242.1:p.Met113Ile
ENST00000469225.1:c.282G>C	ENSP00000466756.1:p.Met94Ile
ENST00000493373.5:c.399G>C	ENSP00000465404.1:p.Met133Ile
ENST00000493678.5:c.399G>C	ENSP00000418770.1:p.Met133Ile
NM_001123377.1:c.399G>C	NP_001116849.1:p.Met133Ile
NM_007262.4:c.399G>C	NP_009193.2:p.Met133Ile
XM_005263424.2:c.399G>C	XP_005263481.1:p.Met133Ile
XM_005263424.3:c.399G>C	XP_005263481.1:p.Met133Ile
NM_007262.5:c.399G>C MANE Select	NP_009193.2:p.Met133Ile
NM_001123377.2:c.399G>C	NP_001116849.1:p.Met133Ile