Canonical Allele Identifier: CA4090495

Gene: PRKN

Linked Data

• dbSNP Id: rs145942836
• ExAC: 6:162864347 C / T
• gnomAD v4: 6-162443315-C-T
• MyVariant Identifiers: chr6:g.162864347C>T (hg19) ; chr6:g.162443315C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.162443315C>T , CM000668.2:g.162443315C>T	GRCh38
NC_000006.11:g.162864347C>T , CM000668.1:g.162864347C>T	GRCh37
NC_000006.10:g.162784337C>T	NCBI36
NG_008289.1:g.289488G>A
NG_008289.2:g.289488G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338468.8:c.166G>A	ENSP00000343589.4:p.Val56Met
ENST00000366894.6:c.166G>A	ENSP00000355860.2:p.Val56Met
ENST00000366898.6:c.166G>A MANE Select	ENSP00000355865.1:p.Val56Met
ENST00000648830.1:n.333G>A
ENST00000673871.1:c.161G>A
ENST00000674232.1:n.184G>A
ENST00000674259.1:n.223G>A
ENST00000674493.1:n.183G>A
ENST00000674501.1:n.273G>A
ENST00000338468.7:c.-286G>A	ENSP00000343589.3:n.-286G>A
ENST00000366892.5:c.166G>A	ENSP00000355858.1:p.Val56Met
ENST00000366894.5:c.-167G>A	ENSP00000355860.1:n.-167G>A
ENST00000366896.5:c.166G>A	ENSP00000355862.1:p.Val56Met
ENST00000366897.5:c.166G>A	ENSP00000355863.1:p.Val56Met
ENST00000366898.5:c.166G>A	ENSP00000355865.1:p.Val56Met
ENST00000479615.5:c.-66-180550G>A	ENSP00000434414.1:n.-66-180550G>A
NM_004562.2:c.166G>A	NP_004553.2:p.Val56Met
NM_013987.2:c.166G>A	NP_054642.2:p.Val56Met
NM_013988.2:c.166G>A	NP_054643.2:p.Val56Met
XM_011535863.1:c.166G>A	XP_011534165.1:p.Val56Met
XM_011535864.1:c.166G>A	XP_011534166.1:p.Val56Met
XM_011535865.1:c.166G>A	XP_011534167.1:p.Val56Met
XM_011535866.1:c.166G>A	XP_011534168.1:p.Val56Met
XM_011535867.1:c.166G>A	XP_011534169.1:p.Val56Met
XM_017010908.1:c.280G>A	XP_016866397.1:p.Val94Met
XM_017010909.2:c.-66-180550G>A	XP_016866398.1:n.-66-180550G>A
XM_024446449.1:c.-66-180550G>A	XP_024302217.1:n.-66-180550G>A
XR_001743443.2:n.272G>A
NM_004562.3:c.166G>A MANE Select	NP_004553.2:p.Val56Met
NM_013987.3:c.166G>A	NP_054642.2:p.Val56Met
NM_013988.3:c.166G>A	NP_054643.2:p.Val56Met