Canonical Allele Identifier: CA366456134

Gene: PRKN

Linked Data

• MyVariant Identifiers: chr6:g.161771139C>G (hg19) ; chr6:g.161350107C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161350107C>G , CM000668.2:g.161350107C>G	GRCh38
NC_000006.11:g.161771139C>G , CM000668.1:g.161771139C>G	GRCh37
NC_000006.10:g.161691129C>G	NCBI36
NG_008289.1:g.1382696G>C
NG_008289.2:g.1382696G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000338468.8:c.1268G>C	ENSP00000343589.4:n.1268G>C
ENST00000366894.6:c.1149G>C	ENSP00000355860.2:n.1149G>C
ENST00000366898.6:c.1390G>C MANE Select	ENSP00000355865.1:p.Asp464His
ENST00000673871.1:c.1471G>C
ENST00000674006.1:n.775G>C
ENST00000674436.1:n.1026G>C
ENST00000338468.7:c.817G>C	ENSP00000343589.3:p.Asp273His
ENST00000366894.5:c.817G>C	ENSP00000355860.1:p.Asp273His
ENST00000366896.5:c.943G>C	ENSP00000355862.1:p.Asp315His
ENST00000366897.5:c.1306G>C	ENSP00000355863.1:p.Asp436His
ENST00000366898.5:c.1390G>C	ENSP00000355865.1:p.Asp464His
ENST00000479615.5:c.*166G>C	ENSP00000434414.1:n.*166G>C
ENST00000610470.4:c.523G>C	ENSP00000483773.1:p.Asp175His
NM_004562.2:c.1390G>C	NP_004553.2:p.Asp464His
NM_013987.2:c.1306G>C	NP_054642.2:p.Asp436His
NM_013988.2:c.943G>C	NP_054643.2:p.Asp315His
XM_011535863.1:c.1387G>C	XP_011534165.1:p.Asp463His
XM_017010908.1:c.1504G>C	XP_016866397.1:p.Asp502His
XM_017010909.2:c.1150G>C	XP_016866398.1:p.Asp384His
XM_024446449.1:c.1153G>C	XP_024302217.1:p.Asp385His
XR_001743443.2:n.1582G>C
NM_004562.3:c.1390G>C MANE Select	NP_004553.2:p.Asp464His
NM_013987.3:c.1306G>C	NP_054642.2:p.Asp436His
NM_013988.3:c.943G>C	NP_054643.2:p.Asp315His