Canonical Allele Identifier: CA338167085

Gene: PARK7

Linked Data

• MyVariant Identifiers: chr1:g.8044998A>C (hg19) ; chr1:g.7984938A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7984938A>C , CM000663.2:g.7984938A>C	GRCh38
NC_000001.10:g.8044998A>C , CM000663.1:g.8044998A>C	GRCh37
NC_000001.9:g.7967585A>C	NCBI36
NG_008271.1:g.28285A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.454A>C MANE Select	ENSP00000340278.5:p.Ile152Leu
ENST00000338639.9:c.454A>C	ENSP00000340278.5:p.Ile152Leu
ENST00000377488.5:c.454A>C	ENSP00000366708.1:p.Ile152Leu
ENST00000377491.5:c.454A>C	ENSP00000366711.1:p.Ile152Leu
ENST00000377493.9:c.394A>C	ENSP00000466242.1:p.Ile132Leu
ENST00000469225.1:c.367A>C	ENSP00000466756.1:p.Ile123Leu
ENST00000493373.5:c.454A>C	ENSP00000465404.1:p.Ile152Leu
ENST00000493678.5:c.454A>C	ENSP00000418770.1:p.Ile152Leu
NM_001123377.1:c.454A>C	NP_001116849.1:p.Ile152Leu
NM_007262.4:c.454A>C	NP_009193.2:p.Ile152Leu
XM_005263424.2:c.454A>C	XP_005263481.1:p.Ile152Leu
XM_005263424.3:c.454A>C	XP_005263481.1:p.Ile152Leu
NM_007262.5:c.454A>C MANE Select	NP_009193.2:p.Ile152Leu
NM_001123377.2:c.454A>C	NP_001116849.1:p.Ile152Leu