Canonical Allele Identifier: CA4090563

Gene: PRKN PACRG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.162727667A>G , CM000668.2:g.162727667A>G	GRCh38
NC_000006.11:g.163148699A>G , CM000668.1:g.163148699A>G	GRCh37
NC_000006.10:g.163068689A>G	NCBI36
NG_008289.1:g.5136T>C
NG_011525.1:g.5536A>G
NG_008289.2:g.5136T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004562.3:c.2T>C (PRKN) MANE Select	NP_004553.2:p.Met1Thr
ENST00000366898.6:c.2T>C (PRKN) MANE Select	ENSP00000355865.1:p.Met1Thr
NM_001080378.1:c.-77+388A>G (PACRG)	NP_001073847.1:n.-77+388A>G
NM_001080378.2:c.-77+388A>G (PACRG)	NP_001073847.1:n.-77+388A>G
NM_004562.2:c.2T>C (PRKN)	NP_004553.2:p.Met1Thr
NM_013987.2:c.2T>C (PRKN)	NP_054642.2:p.Met1Thr
NM_013987.3:c.2T>C (PRKN)	NP_054642.2:p.Met1Thr
NM_013988.2:c.2T>C (PRKN)	NP_054643.2:p.Met1Thr
NM_013988.3:c.2T>C (PRKN)	NP_054643.2:p.Met1Thr
NM_152410.2:c.-77+388A>G (PACRG)	NP_689623.2:n.-77+388A>G
NM_152410.3:c.-77+388A>G (PACRG)	NP_689623.2:n.-77+388A>G
ENST00000337019.7:c.-77+388A>G (PACRG)	ENSP00000337946.3:n.-77+388A>G
ENST00000338468.7:c.-450T>C (PRKN)	ENSP00000343589.3:n.-450T>C
ENST00000338468.8:c.2T>C (PRKN)	ENSP00000343589.4:p.Met1Thr
ENST00000366889.6:c.-77+388A>G (PACRG)	ENSP00000355855.2:n.-77+388A>G
ENST00000366892.5:c.2T>C (PRKN)	ENSP00000355858.1:p.Met1Thr
ENST00000366894.5:c.-331T>C (PRKN)	ENSP00000355860.1:n.-331T>C
ENST00000366894.6:c.2T>C (PRKN)	ENSP00000355860.2:p.Met1Thr
ENST00000366896.5:c.2T>C (PRKN)	ENSP00000355862.1:p.Met1Thr
ENST00000366897.5:c.2T>C (PRKN)	ENSP00000355863.1:p.Met1Thr
ENST00000366898.5:c.2T>C (PRKN)	ENSP00000355865.1:p.Met1Thr
ENST00000479615.5:c.-72T>C (PRKN)	ENSP00000434414.1:n.-72T>C
ENST00000642604.1:n.20T>C (PRKN)
ENST00000647006.2:c.-219T>C (PRKN)	ENSP00000501337.1:n.-219T>C
ENST00000674176.1:n.20T>C (PRKN)
ENST00000674224.1:n.20T>C (PRKN)
ENST00000674232.1:n.20T>C (PRKN)
ENST00000674250.1:c.2T>C (PRKN)	ENSP00000501354.1:p.Met1Thr
ENST00000674353.1:n.19T>C (PRKN)
ENST00000674395.1:n.20T>C (PRKN)
ENST00000674493.1:n.19T>C (PRKN)
ENST00000674501.1:n.109T>C (PRKN)
XM_011535456.1:c.-77+388A>G (PACRG)	XP_011533758.1:n.-77+388A>G
XM_011535458.1:c.-77+375A>G (PACRG)	XP_011533760.1:n.-77+375A>G
XM_011535459.1:c.-87A>G (PACRG)	XP_011533761.1:n.-87A>G
XM_011535460.1:c.-77+18A>G (PACRG)	XP_011533762.1:n.-77+18A>G
XM_011535863.1:c.2T>C (PRKN)	XP_011534165.1:p.Met1Thr
XM_011535864.1:c.2T>C (PRKN)	XP_011534166.1:p.Met1Thr
XM_011535865.1:c.2T>C (PRKN)	XP_011534167.1:p.Met1Thr
XM_011535866.1:c.2T>C (PRKN)	XP_011534168.1:p.Met1Thr
XM_011535867.1:c.2T>C (PRKN)	XP_011534169.1:p.Met1Thr
XM_017010275.2:c.-77+388A>G (PACRG)	XP_016865764.1:n.-77+388A>G
XM_017010277.2:c.-77+375A>G (PACRG)	XP_016865766.1:n.-77+375A>G
XM_017010278.2:c.-87A>G (PACRG)	XP_016865767.1:n.-87A>G
XM_017010279.2:c.-77+18A>G (PACRG)	XP_016865768.1:n.-77+18A>G
XM_017010909.2:c.-72T>C (PRKN)	XP_016866398.1:n.-72T>C
XM_024446449.1:c.-72T>C (PRKN)	XP_024302217.1:n.-72T>C
XR_001743443.2:n.108T>C (PRKN)