Canonical Allele Identifier: CA338166923

Gene: PARK7

Linked Data

• dbSNP Id: rs1252790089
• gnomAD v2: 1-8044926-T-C
• gnomAD v3: 1-7984866-T-C
• gnomAD v4: 1-7984866-T-C
• MyVariant Identifiers: chr1:g.8044926T>C (hg19) ; chr1:g.7984866T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7984866T>C , CM000663.2:g.7984866T>C	GRCh38
NC_000001.10:g.8044926T>C , CM000663.1:g.8044926T>C	GRCh37
NC_000001.9:g.7967513T>C	NCBI36
NG_008271.1:g.28213T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.410-28T>C MANE Select	ENSP00000340278.5:n.410-28T>C
ENST00000338639.9:c.410-28T>C	ENSP00000340278.5:n.410-28T>C
ENST00000377488.5:c.410-28T>C	ENSP00000366708.1:n.410-28T>C
ENST00000377491.5:c.410-28T>C	ENSP00000366711.1:n.410-28T>C
ENST00000377493.9:c.350-28T>C	ENSP00000466242.1:n.350-28T>C
ENST00000469225.1:c.295T>C	ENSP00000466756.1:p.Cys99Arg
ENST00000493373.5:c.410-28T>C	ENSP00000465404.1:n.410-28T>C
ENST00000493678.5:c.410-28T>C	ENSP00000418770.1:n.410-28T>C
NM_001123377.1:c.410-28T>C	NP_001116849.1:n.410-28T>C
NM_007262.4:c.410-28T>C	NP_009193.2:n.410-28T>C
XM_005263424.2:c.410-28T>C	XP_005263481.1:n.410-28T>C
XM_005263424.3:c.410-28T>C	XP_005263481.1:n.410-28T>C
NM_007262.5:c.410-28T>C MANE Select	NP_009193.2:n.410-28T>C
NM_001123377.2:c.410-28T>C	NP_001116849.1:n.410-28T>C