Canonical Allele Identifier: CA4090597

Gene: PRKN PACRG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.162727725C>G , CM000668.2:g.162727725C>G	GRCh38
NC_000006.11:g.163148757C>G , CM000668.1:g.163148757C>G	GRCh37
NC_000006.10:g.163068747C>G	NCBI36
NG_008289.1:g.5078G>C
NG_011525.1:g.5594C>G
NG_008289.2:g.5078G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004562.3:c.-57G>C (PRKN) MANE Select	NP_004553.2:n.-57G>C
ENST00000366898.6:c.-57G>C (PRKN) MANE Select	ENSP00000355865.1:n.-57G>C
NM_001080378.1:c.-76-435C>G (PACRG)	NP_001073847.1:n.-76-435C>G
NM_001080378.2:c.-76-435C>G (PACRG)	NP_001073847.1:n.-76-435C>G
NM_004562.2:c.-57G>C (PRKN)	NP_004553.2:n.-57G>C
NM_013987.2:c.-57G>C (PRKN)	NP_054642.2:n.-57G>C
NM_013987.3:c.-57G>C (PRKN)	NP_054642.2:n.-57G>C
NM_013988.2:c.-57G>C (PRKN)	NP_054643.2:n.-57G>C
NM_013988.3:c.-57G>C (PRKN)	NP_054643.2:n.-57G>C
NM_152410.2:c.-76-435C>G (PACRG)	NP_689623.2:n.-76-435C>G
NM_152410.3:c.-76-435C>G (PACRG)	NP_689623.2:n.-76-435C>G
ENST00000337019.7:c.-76-435C>G (PACRG)	ENSP00000337946.3:n.-76-435C>G
ENST00000366889.6:c.-76-435C>G (PACRG)	ENSP00000355855.2:n.-76-435C>G
ENST00000366892.5:c.-57G>C (PRKN)	ENSP00000355858.1:n.-57G>C
ENST00000366896.5:c.-57G>C (PRKN)	ENSP00000355862.1:n.-57G>C
ENST00000366897.5:c.-57G>C (PRKN)	ENSP00000355863.1:n.-57G>C
ENST00000366898.5:c.-57G>C (PRKN)	ENSP00000355865.1:n.-57G>C
ENST00000674250.1:c.-57G>C (PRKN)	ENSP00000501354.1:n.-57G>C
ENST00000674501.1:n.51G>C (PRKN)
XM_011535456.1:c.-76-435C>G (PACRG)	XP_011533758.1:n.-76-435C>G
XM_011535458.1:c.-77+433C>G (PACRG)	XP_011533760.1:n.-77+433C>G
XM_011535459.1:c.-77+48C>G (PACRG)	XP_011533761.1:n.-77+48C>G
XM_011535460.1:c.-77+76C>G (PACRG)	XP_011533762.1:n.-77+76C>G
XM_011535863.1:c.-57G>C (PRKN)	XP_011534165.1:n.-57G>C
XM_011535864.1:c.-57G>C (PRKN)	XP_011534166.1:n.-57G>C
XM_011535865.1:c.-57G>C (PRKN)	XP_011534167.1:n.-57G>C
XM_011535866.1:c.-57G>C (PRKN)	XP_011534168.1:n.-57G>C
XM_011535867.1:c.-57G>C (PRKN)	XP_011534169.1:n.-57G>C
XM_017010275.2:c.-76-435C>G (PACRG)	XP_016865764.1:n.-76-435C>G
XM_017010277.2:c.-77+433C>G (PACRG)	XP_016865766.1:n.-77+433C>G
XM_017010278.2:c.-77+48C>G (PACRG)	XP_016865767.1:n.-77+48C>G
XM_017010279.2:c.-77+76C>G (PACRG)	XP_016865768.1:n.-77+76C>G
XM_017010909.2:c.-130G>C (PRKN)	XP_016866398.1:n.-130G>C
XM_024446449.1:c.-130G>C (PRKN)	XP_024302217.1:n.-130G>C
XR_001743443.2:n.50G>C (PRKN)