Canonical Allele Identifier: CA415839059
Gene: PARK7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.8045003T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7984943T>C , CM000663.2:g.7984943T>C GRCh38
NC_000001.10:g.8045003T>C , CM000663.1:g.8045003T>C GRCh37
NC_000001.9:g.7967590T>C NCBI36
NG_008271.1:g.28290T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000338639.10:c.459T>C MANE Select ENSP00000340278.5:p.Leu153=
ENST00000338639.9:c.459T>C ENSP00000340278.5:p.Leu153=
ENST00000377488.5:c.459T>C ENSP00000366708.1:p.Leu153=
ENST00000377491.5:c.459T>C ENSP00000366711.1:p.Leu153=
ENST00000377493.9:c.399T>C ENSP00000466242.1:p.Leu133=
ENST00000469225.1:c.372T>C ENSP00000466756.1:p.Leu124=
ENST00000493373.5:c.459T>C ENSP00000465404.1:p.Leu153=
ENST00000493678.5:c.459T>C ENSP00000418770.1:p.Leu153=
NM_001123377.1:c.459T>C NP_001116849.1:p.Leu153=
NM_007262.4:c.459T>C NP_009193.2:p.Leu153=
XM_005263424.2:c.459T>C XP_005263481.1:p.Leu153=
XM_005263424.3:c.459T>C XP_005263481.1:p.Leu153=
NM_007262.5:c.459T>C MANE Select NP_009193.2:p.Leu153=
NM_001123377.2:c.459T>C NP_001116849.1:p.Leu153=