Canonical Allele Identifier: CA569671

Gene: PARK7

Linked Data

• dbSNP Id: rs762645646
• ExAC: 1:8045161 C / T
• gnomAD v2: 1-8045161-C-T
• gnomAD v4: 1-7985101-C-T
• MyVariant Identifiers: chr1:g.8045161C>T (hg19) ; chr1:g.7985101C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7985101C>T , CM000663.2:g.7985101C>T	GRCh38
NC_000001.10:g.8045161C>T , CM000663.1:g.8045161C>T	GRCh37
NC_000001.9:g.7967748C>T	NCBI36
NG_008271.1:g.28448C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.*47C>T MANE Select	ENSP00000340278.5:n.*47C>T
ENST00000338639.9:c.*47C>T	ENSP00000340278.5:n.*47C>T
ENST00000377488.5:c.*47C>T	ENSP00000366708.1:n.*47C>T
ENST00000377491.5:c.*47C>T	ENSP00000366711.1:n.*47C>T
ENST00000377493.9:c.*47C>T	ENSP00000466242.1:n.*47C>T
ENST00000469225.1:c.530C>T	ENSP00000466756.1:n.530C>T
ENST00000493678.5:c.*47C>T	ENSP00000418770.1:n.*47C>T
NM_001123377.1:c.*47C>T	NP_001116849.1:n.*47C>T
NM_007262.4:c.*47C>T	NP_009193.2:n.*47C>T
XM_005263424.2:c.*47C>T	XP_005263481.1:n.*47C>T
XM_005263424.3:c.*47C>T	XP_005263481.1:n.*47C>T
NM_007262.5:c.*47C>T MANE Select	NP_009193.2:n.*47C>T
NM_001123377.2:c.*47C>T	NP_001116849.1:n.*47C>T