Canonical Allele Identifier: CA1677492816
Community Standard Title: NM_004562.3(PRKN):c.1180G= (p.Asp394=)
Gene: PRKN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.161360193C= , CM000668.2:g.161360193C= GRCh38
NC_000006.11:g.161781225C= , CM000668.1:g.161781225C= GRCh37
NC_000006.10:g.161701215C= NCBI36
NG_008289.1:g.1372610G=
NG_008289.2:g.1372610G=

Transcript Alleles

HGVS Amino-acid Change
NM_004562.3:c.1180G= MANE Select NP_004553.2:p.Asp394=
ENST00000366898.6:c.1180G= MANE Select ENSP00000355865.1:p.Asp394=
NM_004562.2:c.1180G= NP_004553.2:p.Asp394=
NM_013987.2:c.1096G= NP_054642.2:p.Asp366=
NM_013987.3:c.1096G= NP_054642.2:p.Asp366=
NM_013988.2:c.733G= NP_054643.2:p.Asp245=
NM_013988.3:c.733G= NP_054643.2:p.Asp245=
ENST00000338468.7:c.607G= ENSP00000343589.3:p.Asp203=
ENST00000338468.8:c.1058G= ENSP00000343589.4:n.1058G=
ENST00000366894.5:c.607G= ENSP00000355860.1:p.Asp203=
ENST00000366894.6:c.939G= ENSP00000355860.2:n.939G=
ENST00000366896.5:c.733G= ENSP00000355862.1:p.Asp245=
ENST00000366897.5:c.1096G= ENSP00000355863.1:p.Asp366=
ENST00000366898.5:c.1180G= ENSP00000355865.1:p.Asp394=
ENST00000479615.5:c.*62-9982G= ENSP00000434414.1:n.*62-9982G=
ENST00000610470.4:c.313G= ENSP00000483773.1:p.Asp105=
ENST00000673871.1:c.1261G=
ENST00000674006.1:n.565G=
ENST00000674436.1:n.816G=
XM_011535863.1:c.1177G= XP_011534165.1:p.Asp393=
XM_017010908.1:c.1294G= XP_016866397.1:p.Asp432=
XM_017010909.2:c.940G= XP_016866398.1:p.Asp314=
XM_024446449.1:c.943G= XP_024302217.1:p.Asp315=
XR_001743443.2:n.1372G=