Canonical Allele Identifier: CA366456234

Gene: PRKN

Linked Data

• MyVariant Identifiers: chr6:g.161771182A>C (hg19) ; chr6:g.161350150A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161350150A>C , CM000668.2:g.161350150A>C	GRCh38
NC_000006.11:g.161771182A>C , CM000668.1:g.161771182A>C	GRCh37
NC_000006.10:g.161691172A>C	NCBI36
NG_008289.1:g.1382653T>G
NG_008289.2:g.1382653T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000338468.8:c.1225T>G	ENSP00000343589.4:n.1225T>G
ENST00000366894.6:c.1106T>G	ENSP00000355860.2:n.1106T>G
ENST00000366898.6:c.1347T>G MANE Select	ENSP00000355865.1:p.Cys449Trp
ENST00000673871.1:c.1428T>G
ENST00000674006.1:n.732T>G
ENST00000674436.1:n.983T>G
ENST00000338468.7:c.774T>G	ENSP00000343589.3:p.Cys258Trp
ENST00000366894.5:c.774T>G	ENSP00000355860.1:p.Cys258Trp
ENST00000366896.5:c.900T>G	ENSP00000355862.1:p.Cys300Trp
ENST00000366897.5:c.1263T>G	ENSP00000355863.1:p.Cys421Trp
ENST00000366898.5:c.1347T>G	ENSP00000355865.1:p.Cys449Trp
ENST00000479615.5:c.*123T>G	ENSP00000434414.1:n.*123T>G
ENST00000610470.4:c.480T>G	ENSP00000483773.1:p.Cys160Trp
NM_004562.2:c.1347T>G	NP_004553.2:p.Cys449Trp
NM_013987.2:c.1263T>G	NP_054642.2:p.Cys421Trp
NM_013988.2:c.900T>G	NP_054643.2:p.Cys300Trp
XM_011535863.1:c.1344T>G	XP_011534165.1:p.Cys448Trp
XM_017010908.1:c.1461T>G	XP_016866397.1:p.Cys487Trp
XM_017010909.2:c.1107T>G	XP_016866398.1:p.Cys369Trp
XM_024446449.1:c.1110T>G	XP_024302217.1:p.Cys370Trp
XR_001743443.2:n.1539T>G
NM_004562.3:c.1347T>G MANE Select	NP_004553.2:p.Cys449Trp
NM_013987.3:c.1263T>G	NP_054642.2:p.Cys421Trp
NM_013988.3:c.900T>G	NP_054643.2:p.Cys300Trp