Canonical Allele Identifier: CA4090502

Gene: PRKN

Linked Data

• ClinVar Variation Id: 468586
• ClinVar RCV Id: RCV000534302 ; RCV001154506 ; RCV002497154
• dbSNP Id: rs75860381
• ExAC: 6:162864377 C / T
• gnomAD v2: 6-162864377-C-T
• gnomAD v3: 6-162443345-C-T
• gnomAD v4: 6-162443345-C-T
• MyVariant Identifiers: chr6:g.162864377C>T (hg19) ; chr6:g.162443345C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.162443345C>T , CM000668.2:g.162443345C>T	GRCh38
NC_000006.11:g.162864377C>T , CM000668.1:g.162864377C>T	GRCh37
NC_000006.10:g.162784367C>T	NCBI36
NG_008289.1:g.289458G>A
NG_008289.2:g.289458G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000338468.8:c.136G>A	ENSP00000343589.4:p.Ala46Thr
ENST00000366894.6:c.136G>A	ENSP00000355860.2:p.Ala46Thr
ENST00000366898.6:c.136G>A MANE Select	ENSP00000355865.1:p.Ala46Thr
ENST00000648830.1:n.303G>A
ENST00000673871.1:c.131G>A
ENST00000674232.1:n.154G>A
ENST00000674259.1:n.193G>A
ENST00000674493.1:n.153G>A
ENST00000674501.1:n.243G>A
ENST00000338468.7:c.-316G>A	ENSP00000343589.3:n.-316G>A
ENST00000366892.5:c.136G>A	ENSP00000355858.1:p.Ala46Thr
ENST00000366894.5:c.-197G>A	ENSP00000355860.1:n.-197G>A
ENST00000366896.5:c.136G>A	ENSP00000355862.1:p.Ala46Thr
ENST00000366897.5:c.136G>A	ENSP00000355863.1:p.Ala46Thr
ENST00000366898.5:c.136G>A	ENSP00000355865.1:p.Ala46Thr
ENST00000479615.5:c.-66-180580G>A	ENSP00000434414.1:n.-66-180580G>A
NM_004562.2:c.136G>A	NP_004553.2:p.Ala46Thr
NM_013987.2:c.136G>A	NP_054642.2:p.Ala46Thr
NM_013988.2:c.136G>A	NP_054643.2:p.Ala46Thr
XM_011535863.1:c.136G>A	XP_011534165.1:p.Ala46Thr
XM_011535864.1:c.136G>A	XP_011534166.1:p.Ala46Thr
XM_011535865.1:c.136G>A	XP_011534167.1:p.Ala46Thr
XM_011535866.1:c.136G>A	XP_011534168.1:p.Ala46Thr
XM_011535867.1:c.136G>A	XP_011534169.1:p.Ala46Thr
XM_017010908.1:c.250G>A	XP_016866397.1:p.Ala84Thr
XM_017010909.2:c.-66-180580G>A	XP_016866398.1:n.-66-180580G>A
XM_024446449.1:c.-66-180580G>A	XP_024302217.1:n.-66-180580G>A
XR_001743443.2:n.242G>A
NM_004562.3:c.136G>A MANE Select	NP_004553.2:p.Ala46Thr
NM_013987.3:c.136G>A	NP_054642.2:p.Ala46Thr
NM_013988.3:c.136G>A	NP_054643.2:p.Ala46Thr