Canonical Allele Identifier: CA338167077

Gene: PARK7

Linked Data

• dbSNP Id: rs1485652002
• gnomAD v2: 1-8044993-G-A
• gnomAD v4: 1-7984933-G-A
• MyVariant Identifiers: chr1:g.8044993G>A (hg19) ; chr1:g.7984933G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7984933G>A , CM000663.2:g.7984933G>A	GRCh38
NC_000001.10:g.8044993G>A , CM000663.1:g.8044993G>A	GRCh37
NC_000001.9:g.7967580G>A	NCBI36
NG_008271.1:g.28280G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.449G>A MANE Select	ENSP00000340278.5:p.Gly150Asp
ENST00000338639.9:c.449G>A	ENSP00000340278.5:p.Gly150Asp
ENST00000377488.5:c.449G>A	ENSP00000366708.1:p.Gly150Asp
ENST00000377491.5:c.449G>A	ENSP00000366711.1:p.Gly150Asp
ENST00000377493.9:c.389G>A	ENSP00000466242.1:p.Gly130Asp
ENST00000469225.1:c.362G>A	ENSP00000466756.1:p.Gly121Asp
ENST00000493373.5:c.449G>A	ENSP00000465404.1:p.Gly150Asp
ENST00000493678.5:c.449G>A	ENSP00000418770.1:p.Gly150Asp
NM_001123377.1:c.449G>A	NP_001116849.1:p.Gly150Asp
NM_007262.4:c.449G>A	NP_009193.2:p.Gly150Asp
XM_005263424.2:c.449G>A	XP_005263481.1:p.Gly150Asp
XM_005263424.3:c.449G>A	XP_005263481.1:p.Gly150Asp
NM_007262.5:c.449G>A MANE Select	NP_009193.2:p.Gly150Asp
NM_001123377.2:c.449G>A	NP_001116849.1:p.Gly150Asp