Canonical Allele Identifier: CA366475420

Gene: PRKN

Linked Data

• dbSNP Id: rs1246047894
• gnomAD v2: 6-162622168-T-C
• gnomAD v3: 6-162201136-T-C
• gnomAD v4: 6-162201136-T-C
• MyVariant Identifiers: chr6:g.162622168T>C (hg19) ; chr6:g.162201136T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.162201136T>C , CM000668.2:g.162201136T>C	GRCh38
NC_000006.11:g.162622168T>C , CM000668.1:g.162622168T>C	GRCh37
NC_000006.10:g.162542158T>C	NCBI36
NG_008289.1:g.531667A>G
NG_008289.2:g.531667A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000338468.8:c.412+61389A>G	ENSP00000343589.4:n.412+61389A>G
ENST00000366894.6:c.288A>G	ENSP00000355860.2:p.Ter96Trp
ENST00000366898.6:c.529A>G MANE Select	ENSP00000355865.1:p.Thr177Ala
ENST00000673871.1:c.524A>G
ENST00000674232.1:n.547A>G
ENST00000674436.1:n.165A>G
ENST00000674501.1:n.636A>G
ENST00000338468.7:c.-40+61389A>G	ENSP00000343589.3:n.-40+61389A>G
ENST00000366892.5:c.529A>G	ENSP00000355858.1:p.Thr177Ala
ENST00000366894.5:c.-45A>G	ENSP00000355860.1:n.-45A>G
ENST00000366896.5:c.172-227719A>G	ENSP00000355862.1:n.172-227719A>G
ENST00000366897.5:c.529A>G	ENSP00000355863.1:p.Thr177Ala
ENST00000366898.5:c.529A>G	ENSP00000355865.1:p.Thr177Ala
ENST00000479615.5:c.292A>G	ENSP00000434414.1:p.Thr98Ala
NM_004562.2:c.529A>G	NP_004553.2:p.Thr177Ala
NM_013987.2:c.529A>G	NP_054642.2:p.Thr177Ala
NM_013988.2:c.172-227719A>G	NP_054643.2:n.172-227719A>G
XM_011535863.1:c.526A>G	XP_011534165.1:p.Thr176Ala
XM_011535864.1:c.529A>G	XP_011534166.1:p.Thr177Ala
XM_011535865.1:c.529A>G	XP_011534167.1:p.Thr177Ala
XM_011535866.1:c.529A>G	XP_011534168.1:p.Thr177Ala
XM_011535867.1:c.529A>G	XP_011534169.1:p.Thr177Ala
XM_017010908.1:c.643A>G	XP_016866397.1:p.Thr215Ala
XM_017010909.2:c.289A>G	XP_016866398.1:p.Thr97Ala
XM_024446449.1:c.292A>G	XP_024302217.1:p.Thr98Ala
XR_001743443.2:n.635A>G
NM_004562.3:c.529A>G MANE Select	NP_004553.2:p.Thr177Ala
NM_013987.3:c.529A>G	NP_054642.2:p.Thr177Ala
NM_013988.3:c.172-227719A>G	NP_054643.2:n.172-227719A>G