Canonical Allele Identifier: CA415839024

Gene: PARK7

Linked Data

• MyVariant Identifiers: chr1:g.8044982G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7984922G>C , CM000663.2:g.7984922G>C	GRCh38
NC_000001.10:g.8044982G>C , CM000663.1:g.8044982G>C	GRCh37
NC_000001.9:g.7967569G>C	NCBI36
NG_008271.1:g.28269G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.438G>C MANE Select	ENSP00000340278.5:p.Val146=
ENST00000338639.9:c.438G>C	ENSP00000340278.5:p.Val146=
ENST00000377488.5:c.438G>C	ENSP00000366708.1:p.Val146=
ENST00000377491.5:c.438G>C	ENSP00000366711.1:p.Val146=
ENST00000377493.9:c.378G>C	ENSP00000466242.1:p.Val126=
ENST00000469225.1:c.351G>C	ENSP00000466756.1:p.Val117=
ENST00000493373.5:c.438G>C	ENSP00000465404.1:p.Val146=
ENST00000493678.5:c.438G>C	ENSP00000418770.1:p.Val146=
NM_001123377.1:c.438G>C	NP_001116849.1:p.Val146=
NM_007262.4:c.438G>C	NP_009193.2:p.Val146=
XM_005263424.2:c.438G>C	XP_005263481.1:p.Val146=
XM_005263424.3:c.438G>C	XP_005263481.1:p.Val146=
NM_007262.5:c.438G>C MANE Select	NP_009193.2:p.Val146=
NM_001123377.2:c.438G>C	NP_001116849.1:p.Val146=