Canonical Allele Identifier: CA366477184

Gene: PRKN

Linked Data

• dbSNP Id: rs1790150139
• gnomAD v3: 6-162443317-G-A
• gnomAD v4: 6-162443317-G-A
• MyVariant Identifiers: chr6:g.162864349G>A (hg19) ; chr6:g.162443317G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.162443317G>A , CM000668.2:g.162443317G>A	GRCh38
NC_000006.11:g.162864349G>A , CM000668.1:g.162864349G>A	GRCh37
NC_000006.10:g.162784339G>A	NCBI36
NG_008289.1:g.289486C>T
NG_008289.2:g.289486C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338468.8:c.164C>T	ENSP00000343589.4:p.Thr55Ile
ENST00000366894.6:c.164C>T	ENSP00000355860.2:p.Thr55Ile
ENST00000366898.6:c.164C>T MANE Select	ENSP00000355865.1:p.Thr55Ile
ENST00000648830.1:n.331C>T
ENST00000673871.1:c.159C>T
ENST00000674232.1:n.182C>T
ENST00000674259.1:n.221C>T
ENST00000674493.1:n.181C>T
ENST00000674501.1:n.271C>T
ENST00000338468.7:c.-288C>T	ENSP00000343589.3:n.-288C>T
ENST00000366892.5:c.164C>T	ENSP00000355858.1:p.Thr55Ile
ENST00000366894.5:c.-169C>T	ENSP00000355860.1:n.-169C>T
ENST00000366896.5:c.164C>T	ENSP00000355862.1:p.Thr55Ile
ENST00000366897.5:c.164C>T	ENSP00000355863.1:p.Thr55Ile
ENST00000366898.5:c.164C>T	ENSP00000355865.1:p.Thr55Ile
ENST00000479615.5:c.-66-180552C>T	ENSP00000434414.1:n.-66-180552C>T
NM_004562.2:c.164C>T	NP_004553.2:p.Thr55Ile
NM_013987.2:c.164C>T	NP_054642.2:p.Thr55Ile
NM_013988.2:c.164C>T	NP_054643.2:p.Thr55Ile
XM_011535863.1:c.164C>T	XP_011534165.1:p.Thr55Ile
XM_011535864.1:c.164C>T	XP_011534166.1:p.Thr55Ile
XM_011535865.1:c.164C>T	XP_011534167.1:p.Thr55Ile
XM_011535866.1:c.164C>T	XP_011534168.1:p.Thr55Ile
XM_011535867.1:c.164C>T	XP_011534169.1:p.Thr55Ile
XM_017010908.1:c.278C>T	XP_016866397.1:p.Thr93Ile
XM_017010909.2:c.-66-180552C>T	XP_016866398.1:n.-66-180552C>T
XM_024446449.1:c.-66-180552C>T	XP_024302217.1:n.-66-180552C>T
XR_001743443.2:n.270C>T
NM_004562.3:c.164C>T MANE Select	NP_004553.2:p.Thr55Ile
NM_013987.3:c.164C>T	NP_054642.2:p.Thr55Ile
NM_013988.3:c.164C>T	NP_054643.2:p.Thr55Ile