Canonical Allele Identifier: CA254083

Gene: PRKN

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.162201182T>A , CM000668.2:g.162201182T>A	GRCh38
NC_000006.11:g.162622214T>A , CM000668.1:g.162622214T>A	GRCh37
NC_000006.10:g.162542204T>A	NCBI36
NG_008289.1:g.531621A>T
NG_008289.2:g.531621A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338468.8:c.412+61343A>T	ENSP00000343589.4:n.412+61343A>T
ENST00000366894.6:c.242A>T	ENSP00000355860.2:p.Asn81Ile
ENST00000366898.6:c.483A>T MANE Select	ENSP00000355865.1:p.Lys161Asn
ENST00000673871.1:c.478A>T
ENST00000674232.1:n.501A>T
ENST00000674436.1:n.119A>T
ENST00000674501.1:n.590A>T
ENST00000338468.7:c.-40+61343A>T	ENSP00000343589.3:n.-40+61343A>T
ENST00000366892.5:c.483A>T	ENSP00000355858.1:p.Lys161Asn
ENST00000366894.5:c.-91A>T	ENSP00000355860.1:n.-91A>T
ENST00000366896.5:c.172-227765A>T	ENSP00000355862.1:n.172-227765A>T
ENST00000366897.5:c.483A>T	ENSP00000355863.1:p.Lys161Asn
ENST00000366898.5:c.483A>T	ENSP00000355865.1:p.Lys161Asn
ENST00000479615.5:c.246A>T	ENSP00000434414.1:p.Lys82Asn
NM_004562.2:c.483A>T	NP_004553.2:p.Lys161Asn
NM_013987.2:c.483A>T	NP_054642.2:p.Lys161Asn
NM_013988.2:c.172-227765A>T	NP_054643.2:n.172-227765A>T
XM_011535863.1:c.480A>T	XP_011534165.1:p.Lys160Asn
XM_011535864.1:c.483A>T	XP_011534166.1:p.Lys161Asn
XM_011535865.1:c.483A>T	XP_011534167.1:p.Lys161Asn
XM_011535866.1:c.483A>T	XP_011534168.1:p.Lys161Asn
XM_011535867.1:c.483A>T	XP_011534169.1:p.Lys161Asn
XM_017010908.1:c.597A>T	XP_016866397.1:p.Lys199Asn
XM_017010909.2:c.243A>T	XP_016866398.1:p.Lys81Asn
XM_024446449.1:c.246A>T	XP_024302217.1:p.Lys82Asn
XR_001743443.2:n.589A>T
NM_004562.3:c.483A>T MANE Select	NP_004553.2:p.Lys161Asn
NM_013987.3:c.483A>T	NP_054642.2:p.Lys161Asn
NM_013988.3:c.172-227765A>T	NP_054643.2:n.172-227765A>T