Canonical Allele Identifier: CA366477378

Gene: PRKN

Linked Data

• dbSNP Id: rs1283476623
• MyVariant Identifiers: chr6:g.162864441G>C (hg19) ; chr6:g.162443409G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.162443409G>C , CM000668.2:g.162443409G>C	GRCh38
NC_000006.11:g.162864441G>C , CM000668.1:g.162864441G>C	GRCh37
NC_000006.10:g.162784431G>C	NCBI36
NG_008289.1:g.289394C>G
NG_008289.2:g.289394C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338468.8:c.72C>G	ENSP00000343589.4:p.Phe24Leu
ENST00000366894.6:c.72C>G	ENSP00000355860.2:p.Phe24Leu
ENST00000366898.6:c.72C>G MANE Select	ENSP00000355865.1:p.Phe24Leu
ENST00000648830.1:n.239C>G
ENST00000673871.1:c.67C>G
ENST00000674232.1:n.90C>G
ENST00000674259.1:n.129C>G
ENST00000674493.1:n.89C>G
ENST00000674501.1:n.179C>G
ENST00000338468.7:c.-380C>G	ENSP00000343589.3:n.-380C>G
ENST00000366892.5:c.72C>G	ENSP00000355858.1:p.Phe24Leu
ENST00000366894.5:c.-261C>G	ENSP00000355860.1:n.-261C>G
ENST00000366896.5:c.72C>G	ENSP00000355862.1:p.Phe24Leu
ENST00000366897.5:c.72C>G	ENSP00000355863.1:p.Phe24Leu
ENST00000366898.5:c.72C>G	ENSP00000355865.1:p.Phe24Leu
ENST00000479615.5:c.-66-180644C>G	ENSP00000434414.1:n.-66-180644C>G
NM_004562.2:c.72C>G	NP_004553.2:p.Phe24Leu
NM_013987.2:c.72C>G	NP_054642.2:p.Phe24Leu
NM_013988.2:c.72C>G	NP_054643.2:p.Phe24Leu
XM_011535863.1:c.72C>G	XP_011534165.1:p.Phe24Leu
XM_011535864.1:c.72C>G	XP_011534166.1:p.Phe24Leu
XM_011535865.1:c.72C>G	XP_011534167.1:p.Phe24Leu
XM_011535866.1:c.72C>G	XP_011534168.1:p.Phe24Leu
XM_011535867.1:c.72C>G	XP_011534169.1:p.Phe24Leu
XM_017010908.1:c.186C>G	XP_016866397.1:p.Phe62Leu
XM_017010909.2:c.-66-180644C>G	XP_016866398.1:n.-66-180644C>G
XM_024446449.1:c.-66-180644C>G	XP_024302217.1:n.-66-180644C>G
XR_001743443.2:n.178C>G
NM_004562.3:c.72C>G MANE Select	NP_004553.2:p.Phe24Leu
NM_013987.3:c.72C>G	NP_054642.2:p.Phe24Leu
NM_013988.3:c.72C>G	NP_054643.2:p.Phe24Leu