Canonical Allele Identifier: CA366456166

Gene: PRKN

Linked Data

• MyVariant Identifiers: chr6:g.161771151C>A (hg19) ; chr6:g.161350119C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161350119C>A , CM000668.2:g.161350119C>A	GRCh38
NC_000006.11:g.161771151C>A , CM000668.1:g.161771151C>A	GRCh37
NC_000006.10:g.161691141C>A	NCBI36
NG_008289.1:g.1382684G>T
NG_008289.2:g.1382684G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000338468.8:c.1256G>T	ENSP00000343589.4:n.1256G>T
ENST00000366894.6:c.1137G>T	ENSP00000355860.2:n.1137G>T
ENST00000366898.6:c.1378G>T MANE Select	ENSP00000355865.1:p.Asp460Tyr
ENST00000673871.1:c.1459G>T
ENST00000674006.1:n.763G>T
ENST00000674436.1:n.1014G>T
ENST00000338468.7:c.805G>T	ENSP00000343589.3:p.Asp269Tyr
ENST00000366894.5:c.805G>T	ENSP00000355860.1:p.Asp269Tyr
ENST00000366896.5:c.931G>T	ENSP00000355862.1:p.Asp311Tyr
ENST00000366897.5:c.1294G>T	ENSP00000355863.1:p.Asp432Tyr
ENST00000366898.5:c.1378G>T	ENSP00000355865.1:p.Asp460Tyr
ENST00000479615.5:c.*154G>T	ENSP00000434414.1:n.*154G>T
ENST00000610470.4:c.511G>T	ENSP00000483773.1:p.Asp171Tyr
NM_004562.2:c.1378G>T	NP_004553.2:p.Asp460Tyr
NM_013987.2:c.1294G>T	NP_054642.2:p.Asp432Tyr
NM_013988.2:c.931G>T	NP_054643.2:p.Asp311Tyr
XM_011535863.1:c.1375G>T	XP_011534165.1:p.Asp459Tyr
XM_017010908.1:c.1492G>T	XP_016866397.1:p.Asp498Tyr
XM_017010909.2:c.1138G>T	XP_016866398.1:p.Asp380Tyr
XM_024446449.1:c.1141G>T	XP_024302217.1:p.Asp381Tyr
XR_001743443.2:n.1570G>T
NM_004562.3:c.1378G>T MANE Select	NP_004553.2:p.Asp460Tyr
NM_013987.3:c.1294G>T	NP_054642.2:p.Asp432Tyr
NM_013988.3:c.931G>T	NP_054643.2:p.Asp311Tyr