Canonical Allele Identifier: CA338167101

Gene: PARK7

Linked Data

• dbSNP Id: rs1185581139
• gnomAD v3: 1-7984945-C-A
• gnomAD v4: 1-7984945-C-A
• MyVariant Identifiers: chr1:g.8045005C>A (hg19) ; chr1:g.7984945C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7984945C>A , CM000663.2:g.7984945C>A	GRCh38
NC_000001.10:g.8045005C>A , CM000663.1:g.8045005C>A	GRCh37
NC_000001.9:g.7967592C>A	NCBI36
NG_008271.1:g.28292C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.461C>A MANE Select	ENSP00000340278.5:p.Thr154Lys
ENST00000338639.9:c.461C>A	ENSP00000340278.5:p.Thr154Lys
ENST00000377488.5:c.461C>A	ENSP00000366708.1:p.Thr154Lys
ENST00000377491.5:c.461C>A	ENSP00000366711.1:p.Thr154Lys
ENST00000377493.9:c.401C>A	ENSP00000466242.1:p.Thr134Lys
ENST00000469225.1:c.374C>A	ENSP00000466756.1:p.Thr125Lys
ENST00000493373.5:c.461C>A	ENSP00000465404.1:p.Thr154Lys
ENST00000493678.5:c.461C>A	ENSP00000418770.1:p.Thr154Lys
NM_001123377.1:c.461C>A	NP_001116849.1:p.Thr154Lys
NM_007262.4:c.461C>A	NP_009193.2:p.Thr154Lys
XM_005263424.2:c.461C>A	XP_005263481.1:p.Thr154Lys
XM_005263424.3:c.461C>A	XP_005263481.1:p.Thr154Lys
NM_007262.5:c.461C>A MANE Select	NP_009193.2:p.Thr154Lys
NM_001123377.2:c.461C>A	NP_001116849.1:p.Thr154Lys