Canonical Allele Identifier: CA338167063

Gene: PARK7

Linked Data

• dbSNP Id: rs1229126169
• gnomAD v2: 1-8044987-A-C
• gnomAD v3: 1-7984927-A-C
• gnomAD v4: 1-7984927-A-C
• MyVariant Identifiers: chr1:g.8044987A>C (hg19) ; chr1:g.7984927A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7984927A>C , CM000663.2:g.7984927A>C	GRCh38
NC_000001.10:g.8044987A>C , CM000663.1:g.8044987A>C	GRCh37
NC_000001.9:g.7967574A>C	NCBI36
NG_008271.1:g.28274A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.443A>C MANE Select	ENSP00000340278.5:p.Lys148Thr
ENST00000338639.9:c.443A>C	ENSP00000340278.5:p.Lys148Thr
ENST00000377488.5:c.443A>C	ENSP00000366708.1:p.Lys148Thr
ENST00000377491.5:c.443A>C	ENSP00000366711.1:p.Lys148Thr
ENST00000377493.9:c.383A>C	ENSP00000466242.1:p.Lys128Thr
ENST00000469225.1:c.356A>C	ENSP00000466756.1:p.Lys119Thr
ENST00000493373.5:c.443A>C	ENSP00000465404.1:p.Lys148Thr
ENST00000493678.5:c.443A>C	ENSP00000418770.1:p.Lys148Thr
NM_001123377.1:c.443A>C	NP_001116849.1:p.Lys148Thr
NM_007262.4:c.443A>C	NP_009193.2:p.Lys148Thr
XM_005263424.2:c.443A>C	XP_005263481.1:p.Lys148Thr
XM_005263424.3:c.443A>C	XP_005263481.1:p.Lys148Thr
NM_007262.5:c.443A>C MANE Select	NP_009193.2:p.Lys148Thr
NM_001123377.2:c.443A>C	NP_001116849.1:p.Lys148Thr