Canonical Allele Identifier: CA15076846

Gene: PARK7

Linked Data

• ClinVar Variation Id: 1267442
• ClinVar RCV Id: RCV001677467
• dbSNP Id: rs7517357
• gnomAD v2: 1-8025275-C-T
• gnomAD v3: 1-7965215-C-T
• gnomAD v4: 1-7965215-C-T
• MyVariant Identifiers: chr1:g.8025275C>T (hg19) ; chr1:g.7965215C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7965215C>T , CM000663.2:g.7965215C>T	GRCh38
NC_000001.10:g.8025275C>T , CM000663.1:g.8025275C>T	GRCh37
NC_000001.9:g.7947862C>T	NCBI36
NG_008271.1:g.8562C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000338639.10:c.91-109C>T MANE Select	ENSP00000340278.5:n.91-109C>T
ENST00000338639.9:c.91-109C>T	ENSP00000340278.5:n.91-109C>T
ENST00000377488.5:c.91-109C>T	ENSP00000366708.1:n.91-109C>T
ENST00000377491.5:c.91-109C>T	ENSP00000366711.1:n.91-109C>T
ENST00000377493.9:c.91-109C>T	ENSP00000466242.1:n.91-109C>T
ENST00000460192.5:n.187-109C>T
ENST00000465354.5:n.160-109C>T
ENST00000493373.5:c.91-109C>T	ENSP00000465404.1:n.91-109C>T
ENST00000493678.5:c.91-109C>T	ENSP00000418770.1:n.91-109C>T
ENST00000497113.1:n.110-109C>T
NM_001123377.1:c.91-109C>T	NP_001116849.1:n.91-109C>T
NM_007262.4:c.91-109C>T	NP_009193.2:n.91-109C>T
XM_005263424.2:c.91-109C>T	XP_005263481.1:n.91-109C>T
XM_005263424.3:c.91-109C>T	XP_005263481.1:n.91-109C>T
NM_007262.5:c.91-109C>T MANE Select	NP_009193.2:n.91-109C>T
NM_001123377.2:c.91-109C>T	NP_001116849.1:n.91-109C>T