Canonical Allele Identifier: CA17286838

Gene: PARK7

Linked Data

• dbSNP Id: rs1044766
• gnomAD v4: 1-7985241-C-T
• MyVariant Identifiers: chr1:g.8045301C>T (hg19) ; chr1:g.7985241C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7985241C>T , CM000663.2:g.7985241C>T	GRCh38
NC_000001.10:g.8045301C>T , CM000663.1:g.8045301C>T	GRCh37
NC_000001.9:g.7967888C>T	NCBI36
NG_008271.1:g.28588C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.*187C>T MANE Select	ENSP00000340278.5:n.*187C>T
ENST00000338639.9:c.*187C>T	ENSP00000340278.5:n.*187C>T
ENST00000377491.5:c.*187C>T	ENSP00000366711.1:n.*187C>T
ENST00000377493.9:c.*187C>T	ENSP00000466242.1:n.*187C>T
ENST00000469225.1:c.670C>T	ENSP00000466756.1:n.670C>T
ENST00000493678.5:c.*187C>T	ENSP00000418770.1:n.*187C>T
NM_001123377.1:c.*187C>T	NP_001116849.1:n.*187C>T
NM_007262.4:c.*187C>T	NP_009193.2:n.*187C>T
XM_005263424.2:c.*187C>T	XP_005263481.1:n.*187C>T
XM_005263424.3:c.*187C>T	XP_005263481.1:n.*187C>T
NM_007262.5:c.*187C>T MANE Select	NP_009193.2:n.*187C>T
NM_001123377.2:c.*187C>T	NP_001116849.1:n.*187C>T