Canonical Allele Identifier: CA4090265

Gene: PRKN

Linked Data

• dbSNP Id: rs137853054
• ExAC: 6:162394349 G / T
• gnomAD v2: 6-162394349-G-T
• MyVariant Identifiers: chr6:g.162394349G>T (hg19) ; chr6:g.161973317G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161973317G>T , CM000668.2:g.161973317G>T	GRCh38
NC_000006.11:g.162394349G>T , CM000668.1:g.162394349G>T	GRCh37
NC_000006.10:g.162314339G>T	NCBI36
NG_008289.1:g.759486C>A
NG_008289.2:g.759486C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000338468.8:c.597C>A	ENSP00000343589.4:n.597C>A
ENST00000366894.6:c.478C>A	ENSP00000355860.2:n.478C>A
ENST00000366898.6:c.719C>A MANE Select	ENSP00000355865.1:p.Thr240Lys
ENST00000673871.1:c.714C>A
ENST00000674232.1:n.737C>A
ENST00000674436.1:n.355C>A
ENST00000674501.1:n.826C>A
ENST00000338468.7:c.146C>A	ENSP00000343589.3:p.Thr49Lys
ENST00000366892.5:c.719C>A	ENSP00000355858.1:p.Thr240Lys
ENST00000366894.5:c.146C>A	ENSP00000355860.1:p.Thr49Lys
ENST00000366896.5:c.272C>A	ENSP00000355862.1:p.Thr91Lys
ENST00000366897.5:c.635C>A	ENSP00000355863.1:p.Thr212Lys
ENST00000366898.5:c.719C>A	ENSP00000355865.1:p.Thr240Lys
ENST00000479615.5:c.482C>A	ENSP00000434414.1:p.Thr161Lys
NM_004562.2:c.719C>A	NP_004553.2:p.Thr240Lys
NM_013987.2:c.635C>A	NP_054642.2:p.Thr212Lys
NM_013988.2:c.272C>A	NP_054643.2:p.Thr91Lys
XM_011535863.1:c.716C>A	XP_011534165.1:p.Thr239Lys
XM_011535864.1:c.719C>A	XP_011534166.1:p.Thr240Lys
XM_011535865.1:c.719C>A	XP_011534167.1:p.Thr240Lys
XM_011535866.1:c.719C>A	XP_011534168.1:p.Thr240Lys
XM_011535867.1:c.719C>A	XP_011534169.1:p.Thr240Lys
XM_017010908.1:c.833C>A	XP_016866397.1:p.Thr278Lys
XM_017010909.2:c.479C>A	XP_016866398.1:p.Thr160Lys
XM_024446449.1:c.482C>A	XP_024302217.1:p.Thr161Lys
XR_001743443.2:n.825C>A
NM_004562.3:c.719C>A MANE Select	NP_004553.2:p.Thr240Lys
NM_013987.3:c.635C>A	NP_054642.2:p.Thr212Lys
NM_013988.3:c.272C>A	NP_054643.2:p.Thr91Lys