Canonical Allele Identifier: CA569635

Gene: PARK7

Linked Data

• dbSNP Id: rs780991489
• ExAC: 1:8045036 T / G
• gnomAD v2: 1-8045036-T-G
• gnomAD v3: 1-7984976-T-G
• gnomAD v4: 1-7984976-T-G
• MyVariant Identifiers: chr1:g.8045036T>G (hg19) ; chr1:g.7984976T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7984976T>G , CM000663.2:g.7984976T>G	GRCh38
NC_000001.10:g.8045036T>G , CM000663.1:g.8045036T>G	GRCh37
NC_000001.9:g.7967623T>G	NCBI36
NG_008271.1:g.28323T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.492T>G MANE Select	ENSP00000340278.5:p.Phe164Leu
ENST00000338639.9:c.492T>G	ENSP00000340278.5:p.Phe164Leu
ENST00000377488.5:c.492T>G	ENSP00000366708.1:p.Phe164Leu
ENST00000377491.5:c.492T>G	ENSP00000366711.1:p.Phe164Leu
ENST00000377493.9:c.432T>G	ENSP00000466242.1:p.Phe144Leu
ENST00000469225.1:c.405T>G	ENSP00000466756.1:p.Phe135Leu
ENST00000493373.5:c.492T>G	ENSP00000465404.1:p.Phe164Leu
ENST00000493678.5:c.492T>G	ENSP00000418770.1:p.Phe164Leu
NM_001123377.1:c.492T>G	NP_001116849.1:p.Phe164Leu
NM_007262.4:c.492T>G	NP_009193.2:p.Phe164Leu
XM_005263424.2:c.492T>G	XP_005263481.1:p.Phe164Leu
XM_005263424.3:c.492T>G	XP_005263481.1:p.Phe164Leu
NM_007262.5:c.492T>G MANE Select	NP_009193.2:p.Phe164Leu
NM_001123377.2:c.492T>G	NP_001116849.1:p.Phe164Leu