Canonical Allele Identifier: CA569624

Gene: PARK7

Linked Data

• dbSNP Id: rs772561823
• ExAC: 1:8044988 A / G
• gnomAD v2: 1-8044988-A-G
• gnomAD v4: 1-7984928-A-G
• MyVariant Identifiers: chr1:g.8044988A>G (hg19) ; chr1:g.7984928A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7984928A>G , CM000663.2:g.7984928A>G	GRCh38
NC_000001.10:g.8044988A>G , CM000663.1:g.8044988A>G	GRCh37
NC_000001.9:g.7967575A>G	NCBI36
NG_008271.1:g.28275A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.444A>G MANE Select	ENSP00000340278.5:p.Lys148=
ENST00000338639.9:c.444A>G	ENSP00000340278.5:p.Lys148=
ENST00000377488.5:c.444A>G	ENSP00000366708.1:p.Lys148=
ENST00000377491.5:c.444A>G	ENSP00000366711.1:p.Lys148=
ENST00000377493.9:c.384A>G	ENSP00000466242.1:p.Lys128=
ENST00000469225.1:c.357A>G	ENSP00000466756.1:p.Lys119=
ENST00000493373.5:c.444A>G	ENSP00000465404.1:p.Lys148=
ENST00000493678.5:c.444A>G	ENSP00000418770.1:p.Lys148=
NM_001123377.1:c.444A>G	NP_001116849.1:p.Lys148=
NM_007262.4:c.444A>G	NP_009193.2:p.Lys148=
XM_005263424.2:c.444A>G	XP_005263481.1:p.Lys148=
XM_005263424.3:c.444A>G	XP_005263481.1:p.Lys148=
NM_007262.5:c.444A>G MANE Select	NP_009193.2:p.Lys148=
NM_001123377.2:c.444A>G	NP_001116849.1:p.Lys148=