Canonical Allele Identifier: CA366456142

Gene: PRKN

Linked Data

• dbSNP Id: rs1374007271
• gnomAD v3: 6-161350110-A-G
• gnomAD v4: 6-161350110-A-G
• MyVariant Identifiers: chr6:g.161771142A>G (hg19) ; chr6:g.161350110A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161350110A>G , CM000668.2:g.161350110A>G	GRCh38
NC_000006.11:g.161771142A>G , CM000668.1:g.161771142A>G	GRCh37
NC_000006.10:g.161691132A>G	NCBI36
NG_008289.1:g.1382693T>C
NG_008289.2:g.1382693T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000338468.8:c.1265T>C	ENSP00000343589.4:n.1265T>C
ENST00000366894.6:c.1146T>C	ENSP00000355860.2:n.1146T>C
ENST00000366898.6:c.1387T>C MANE Select	ENSP00000355865.1:p.Phe463Leu
ENST00000673871.1:c.1468T>C
ENST00000674006.1:n.772T>C
ENST00000674436.1:n.1023T>C
ENST00000338468.7:c.814T>C	ENSP00000343589.3:p.Phe272Leu
ENST00000366894.5:c.814T>C	ENSP00000355860.1:p.Phe272Leu
ENST00000366896.5:c.940T>C	ENSP00000355862.1:p.Phe314Leu
ENST00000366897.5:c.1303T>C	ENSP00000355863.1:p.Phe435Leu
ENST00000366898.5:c.1387T>C	ENSP00000355865.1:p.Phe463Leu
ENST00000479615.5:c.*163T>C	ENSP00000434414.1:n.*163T>C
ENST00000610470.4:c.520T>C	ENSP00000483773.1:p.Phe174Leu
NM_004562.2:c.1387T>C	NP_004553.2:p.Phe463Leu
NM_013987.2:c.1303T>C	NP_054642.2:p.Phe435Leu
NM_013988.2:c.940T>C	NP_054643.2:p.Phe314Leu
XM_011535863.1:c.1384T>C	XP_011534165.1:p.Phe462Leu
XM_017010908.1:c.1501T>C	XP_016866397.1:p.Phe501Leu
XM_017010909.2:c.1147T>C	XP_016866398.1:p.Phe383Leu
XM_024446449.1:c.1150T>C	XP_024302217.1:p.Phe384Leu
XR_001743443.2:n.1579T>C
NM_004562.3:c.1387T>C MANE Select	NP_004553.2:p.Phe463Leu
NM_013987.3:c.1303T>C	NP_054642.2:p.Phe435Leu
NM_013988.3:c.940T>C	NP_054643.2:p.Phe314Leu