Canonical Allele Identifier: CA338167081
Gene: PARK7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7984935C>G , CM000663.2:g.7984935C>G GRCh38
NC_000001.10:g.8044995C>G , CM000663.1:g.8044995C>G GRCh37
NC_000001.9:g.7967582C>G NCBI36
NG_008271.1:g.28282C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000338639.10:c.451C>G MANE Select ENSP00000340278.5:p.Leu151Val
ENST00000338639.9:c.451C>G ENSP00000340278.5:p.Leu151Val
ENST00000377488.5:c.451C>G ENSP00000366708.1:p.Leu151Val
ENST00000377491.5:c.451C>G ENSP00000366711.1:p.Leu151Val
ENST00000377493.9:c.391C>G ENSP00000466242.1:p.Leu131Val
ENST00000469225.1:c.364C>G ENSP00000466756.1:p.Leu122Val
ENST00000493373.5:c.451C>G ENSP00000465404.1:p.Leu151Val
ENST00000493678.5:c.451C>G ENSP00000418770.1:p.Leu151Val
NM_001123377.1:c.451C>G NP_001116849.1:p.Leu151Val
NM_007262.4:c.451C>G NP_009193.2:p.Leu151Val
XM_005263424.2:c.451C>G XP_005263481.1:p.Leu151Val
XM_005263424.3:c.451C>G XP_005263481.1:p.Leu151Val
NM_007262.5:c.451C>G MANE Select NP_009193.2:p.Leu151Val
NM_001123377.2:c.451C>G NP_001116849.1:p.Leu151Val