Canonical Allele Identifier: CA254080

Gene: PRKN

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.162262692G>T , CM000668.2:g.162262692G>T	GRCh38
NC_000006.11:g.162683724G>T , CM000668.1:g.162683724G>T	GRCh37
NC_000006.10:g.162603714G>T	NCBI36
NG_008289.1:g.470111C>A
NG_008289.2:g.470111C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338468.8:c.245C>A	ENSP00000343589.4:p.Ala82Glu
ENST00000366894.6:c.172-61440C>A	ENSP00000355860.2:n.172-61440C>A
ENST00000366898.6:c.245C>A MANE Select	ENSP00000355865.1:p.Ala82Glu
ENST00000673871.1:c.240C>A
ENST00000674232.1:n.263C>A
ENST00000674501.1:n.352C>A
ENST00000338468.7:c.-207C>A	ENSP00000343589.3:n.-207C>A
ENST00000366892.5:c.245C>A	ENSP00000355858.1:p.Ala82Glu
ENST00000366894.5:c.-161-61440C>A	ENSP00000355860.1:n.-161-61440C>A
ENST00000366896.5:c.171+180618C>A	ENSP00000355862.1:n.171+180618C>A
ENST00000366897.5:c.245C>A	ENSP00000355863.1:p.Ala82Glu
ENST00000366898.5:c.245C>A	ENSP00000355865.1:p.Ala82Glu
ENST00000479615.5:c.8C>A	ENSP00000434414.1:p.Ala3Glu
ENST00000612540.1:c.437C>A	ENSP00000478353.1:p.Ala146Glu
ENST00000615065.1:c.77C>A	ENSP00000484112.1:p.Ala26Glu
NM_004562.2:c.245C>A	NP_004553.2:p.Ala82Glu
NM_013987.2:c.245C>A	NP_054642.2:p.Ala82Glu
NM_013988.2:c.171+180618C>A	NP_054643.2:n.171+180618C>A
XM_011535863.1:c.245C>A	XP_011534165.1:p.Ala82Glu
XM_011535864.1:c.245C>A	XP_011534166.1:p.Ala82Glu
XM_011535865.1:c.245C>A	XP_011534167.1:p.Ala82Glu
XM_011535866.1:c.245C>A	XP_011534168.1:p.Ala82Glu
XM_011535867.1:c.245C>A	XP_011534169.1:p.Ala82Glu
XM_017010908.1:c.359C>A	XP_016866397.1:p.Ala120Glu
XM_017010909.2:c.8C>A	XP_016866398.1:p.Ala3Glu
XM_024446449.1:c.8C>A	XP_024302217.1:p.Ala3Glu
XR_001743443.2:n.351C>A
NM_004562.3:c.245C>A MANE Select	NP_004553.2:p.Ala82Glu
NM_013987.3:c.245C>A	NP_054642.2:p.Ala82Glu
NM_013988.3:c.171+180618C>A	NP_054643.2:n.171+180618C>A