Canonical Allele Identifier: CA366456209

Gene: PRKN

Linked Data

• COSMIC: COSM6105660
• MyVariant Identifiers: chr6:g.161771171C>A (hg19) ; chr6:g.161350139C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161350139C>A , CM000668.2:g.161350139C>A	GRCh38
NC_000006.11:g.161771171C>A , CM000668.1:g.161771171C>A	GRCh37
NC_000006.10:g.161691161C>A	NCBI36
NG_008289.1:g.1382664G>T
NG_008289.2:g.1382664G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000338468.8:c.1236G>T	ENSP00000343589.4:n.1236G>T
ENST00000366894.6:c.1117G>T	ENSP00000355860.2:n.1117G>T
ENST00000366898.6:c.1358G>T MANE Select	ENSP00000355865.1:p.Trp453Leu
ENST00000673871.1:c.1439G>T
ENST00000674006.1:n.743G>T
ENST00000674436.1:n.994G>T
ENST00000338468.7:c.785G>T	ENSP00000343589.3:p.Trp262Leu
ENST00000366894.5:c.785G>T	ENSP00000355860.1:p.Trp262Leu
ENST00000366896.5:c.911G>T	ENSP00000355862.1:p.Trp304Leu
ENST00000366897.5:c.1274G>T	ENSP00000355863.1:p.Trp425Leu
ENST00000366898.5:c.1358G>T	ENSP00000355865.1:p.Trp453Leu
ENST00000479615.5:c.*134G>T	ENSP00000434414.1:n.*134G>T
ENST00000610470.4:c.491G>T	ENSP00000483773.1:p.Trp164Leu
NM_004562.2:c.1358G>T	NP_004553.2:p.Trp453Leu
NM_013987.2:c.1274G>T	NP_054642.2:p.Trp425Leu
NM_013988.2:c.911G>T	NP_054643.2:p.Trp304Leu
XM_011535863.1:c.1355G>T	XP_011534165.1:p.Trp452Leu
XM_017010908.1:c.1472G>T	XP_016866397.1:p.Trp491Leu
XM_017010909.2:c.1118G>T	XP_016866398.1:p.Trp373Leu
XM_024446449.1:c.1121G>T	XP_024302217.1:p.Trp374Leu
XR_001743443.2:n.1550G>T
NM_004562.3:c.1358G>T MANE Select	NP_004553.2:p.Trp453Leu
NM_013987.3:c.1274G>T	NP_054642.2:p.Trp425Leu
NM_013988.3:c.911G>T	NP_054643.2:p.Trp304Leu