Canonical Allele Identifier: CA4090439

Gene: PRKN

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.162262682G>A , CM000668.2:g.162262682G>A	GRCh38
NC_000006.11:g.162683714G>A , CM000668.1:g.162683714G>A	GRCh37
NC_000006.10:g.162603704G>A	NCBI36
NG_008289.1:g.470121C>T
NG_008289.2:g.470121C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004562.3:c.255C>T MANE Select	NP_004553.2:p.Gly85=
ENST00000366898.6:c.255C>T MANE Select	ENSP00000355865.1:p.Gly85=
NM_004562.2:c.255C>T	NP_004553.2:p.Gly85=
NM_013987.2:c.255C>T	NP_054642.2:p.Gly85=
NM_013987.3:c.255C>T	NP_054642.2:p.Gly85=
NM_013988.2:c.171+180628C>T	NP_054643.2:n.171+180628C>T
NM_013988.3:c.171+180628C>T	NP_054643.2:n.171+180628C>T
ENST00000338468.7:c.-197C>T	ENSP00000343589.3:n.-197C>T
ENST00000338468.8:c.255C>T	ENSP00000343589.4:p.Gly85=
ENST00000366892.5:c.255C>T	ENSP00000355858.1:p.Gly85=
ENST00000366894.5:c.-161-61430C>T	ENSP00000355860.1:n.-161-61430C>T
ENST00000366894.6:c.172-61430C>T	ENSP00000355860.2:n.172-61430C>T
ENST00000366896.5:c.171+180628C>T	ENSP00000355862.1:n.171+180628C>T
ENST00000366897.5:c.255C>T	ENSP00000355863.1:p.Gly85=
ENST00000366898.5:c.255C>T	ENSP00000355865.1:p.Gly85=
ENST00000479615.5:c.18C>T	ENSP00000434414.1:p.Gly6=
ENST00000612540.1:c.447C>T	ENSP00000478353.1:p.Gly149=
ENST00000615065.1:c.87C>T	ENSP00000484112.1:p.Gly29=
ENST00000673871.1:c.250C>T
ENST00000674232.1:n.273C>T
ENST00000674501.1:n.362C>T
XM_011535863.1:c.255C>T	XP_011534165.1:p.Gly85=
XM_011535864.1:c.255C>T	XP_011534166.1:p.Gly85=
XM_011535865.1:c.255C>T	XP_011534167.1:p.Gly85=
XM_011535866.1:c.255C>T	XP_011534168.1:p.Gly85=
XM_011535867.1:c.255C>T	XP_011534169.1:p.Gly85=
XM_017010908.1:c.369C>T	XP_016866397.1:p.Gly123=
XM_017010909.2:c.18C>T	XP_016866398.1:p.Gly6=
XM_024446449.1:c.18C>T	XP_024302217.1:p.Gly6=
XR_001743443.2:n.361C>T