Canonical Allele Identifier: CA569625

Gene: PARK7

Linked Data

• dbSNP Id: rs144764347
• ExAC: 1:8044991 C / T
• gnomAD v2: 1-8044991-C-T
• gnomAD v3: 1-7984931-C-T
• gnomAD v4: 1-7984931-C-T
• MyVariant Identifiers: chr1:g.8044991C>T (hg19) ; chr1:g.7984931C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7984931C>T , CM000663.2:g.7984931C>T	GRCh38
NC_000001.10:g.8044991C>T , CM000663.1:g.8044991C>T	GRCh37
NC_000001.9:g.7967578C>T	NCBI36
NG_008271.1:g.28278C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000338639.10:c.447C>T MANE Select	ENSP00000340278.5:p.Asp149=
ENST00000338639.9:c.447C>T	ENSP00000340278.5:p.Asp149=
ENST00000377488.5:c.447C>T	ENSP00000366708.1:p.Asp149=
ENST00000377491.5:c.447C>T	ENSP00000366711.1:p.Asp149=
ENST00000377493.9:c.387C>T	ENSP00000466242.1:p.Asp129=
ENST00000469225.1:c.360C>T	ENSP00000466756.1:p.Asp120=
ENST00000493373.5:c.447C>T	ENSP00000465404.1:p.Asp149=
ENST00000493678.5:c.447C>T	ENSP00000418770.1:p.Asp149=
NM_001123377.1:c.447C>T	NP_001116849.1:p.Asp149=
NM_007262.4:c.447C>T	NP_009193.2:p.Asp149=
XM_005263424.2:c.447C>T	XP_005263481.1:p.Asp149=
XM_005263424.3:c.447C>T	XP_005263481.1:p.Asp149=
NM_007262.5:c.447C>T MANE Select	NP_009193.2:p.Asp149=
NM_001123377.2:c.447C>T	NP_001116849.1:p.Asp149=