Canonical Allele Identifier: CA453189707

Gene: PRKN

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.162201221C>G , CM000668.2:g.162201221C>G	GRCh38
NC_000006.11:g.162622253C>G , CM000668.1:g.162622253C>G	GRCh37
NC_000006.10:g.162542243C>G	NCBI36
NG_008289.1:g.531582G>C
NG_008289.2:g.531582G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004562.3:c.444G>C MANE Select	NP_004553.2:p.Val148=
ENST00000366898.6:c.444G>C MANE Select	ENSP00000355865.1:p.Val148=
NM_004562.2:c.444G>C	NP_004553.2:p.Val148=
NM_013987.2:c.444G>C	NP_054642.2:p.Val148=
NM_013987.3:c.444G>C	NP_054642.2:p.Val148=
NM_013988.2:c.172-227804G>C	NP_054643.2:n.172-227804G>C
NM_013988.3:c.172-227804G>C	NP_054643.2:n.172-227804G>C
ENST00000338468.7:c.-40+61304G>C	ENSP00000343589.3:n.-40+61304G>C
ENST00000338468.8:c.412+61304G>C	ENSP00000343589.4:n.412+61304G>C
ENST00000366892.5:c.444G>C	ENSP00000355858.1:p.Val148=
ENST00000366894.5:c.-130G>C	ENSP00000355860.1:n.-130G>C
ENST00000366894.6:c.203G>C	ENSP00000355860.2:p.Cys68Ser
ENST00000366896.5:c.172-227804G>C	ENSP00000355862.1:n.172-227804G>C
ENST00000366897.5:c.444G>C	ENSP00000355863.1:p.Val148=
ENST00000366898.5:c.444G>C	ENSP00000355865.1:p.Val148=
ENST00000479615.5:c.207G>C	ENSP00000434414.1:p.Val69=
ENST00000673871.1:c.439G>C
ENST00000674232.1:n.462G>C
ENST00000674436.1:n.80G>C
ENST00000674501.1:n.551G>C
XM_011535863.1:c.441G>C	XP_011534165.1:p.Val147=
XM_011535864.1:c.444G>C	XP_011534166.1:p.Val148=
XM_011535865.1:c.444G>C	XP_011534167.1:p.Val148=
XM_011535866.1:c.444G>C	XP_011534168.1:p.Val148=
XM_011535867.1:c.444G>C	XP_011534169.1:p.Val148=
XM_017010908.1:c.558G>C	XP_016866397.1:p.Val186=
XM_017010909.2:c.204G>C	XP_016866398.1:p.Val68=
XM_024446449.1:c.207G>C	XP_024302217.1:p.Val69=
XR_001743443.2:n.550G>C