Canonical Allele Identifier: CA1678013008

Gene: PRKN

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.162443344G= , CM000668.2:g.162443344G=	GRCh38
NC_000006.11:g.162864376G= , CM000668.1:g.162864376G=	GRCh37
NC_000006.10:g.162784366G=	NCBI36
NG_008289.1:g.289459C=
NG_008289.2:g.289459C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338468.8:c.137C=	ENSP00000343589.4:p.Ala46=
ENST00000366894.6:c.137C=	ENSP00000355860.2:p.Ala46=
ENST00000366898.6:c.137C= MANE Select	ENSP00000355865.1:p.Ala46=
ENST00000648830.1:n.304C=
ENST00000673871.1:c.132C=
ENST00000674232.1:n.155C=
ENST00000674259.1:n.194C=
ENST00000674493.1:n.154C=
ENST00000674501.1:n.244C=
ENST00000338468.7:c.-315C=	ENSP00000343589.3:n.-315C=
ENST00000366892.5:c.137C=	ENSP00000355858.1:p.Ala46=
ENST00000366894.5:c.-196C=	ENSP00000355860.1:n.-196C=
ENST00000366896.5:c.137C=	ENSP00000355862.1:p.Ala46=
ENST00000366897.5:c.137C=	ENSP00000355863.1:p.Ala46=
ENST00000366898.5:c.137C=	ENSP00000355865.1:p.Ala46=
ENST00000479615.5:c.-66-180579C=	ENSP00000434414.1:n.-66-180579C=
NM_004562.2:c.137C=	NP_004553.2:p.Ala46=
NM_013987.2:c.137C=	NP_054642.2:p.Ala46=
NM_013988.2:c.137C=	NP_054643.2:p.Ala46=
XM_011535863.1:c.137C=	XP_011534165.1:p.Ala46=
XM_011535864.1:c.137C=	XP_011534166.1:p.Ala46=
XM_011535865.1:c.137C=	XP_011534167.1:p.Ala46=
XM_011535866.1:c.137C=	XP_011534168.1:p.Ala46=
XM_011535867.1:c.137C=	XP_011534169.1:p.Ala46=
XM_017010908.1:c.251C=	XP_016866397.1:p.Ala84=
XM_017010909.2:c.-66-180579C=	XP_016866398.1:n.-66-180579C=
XM_024446449.1:c.-66-180579C=	XP_024302217.1:n.-66-180579C=
XR_001743443.2:n.243C=
NM_004562.3:c.137C= MANE Select	NP_004553.2:p.Ala46=
NM_013987.3:c.137C=	NP_054642.2:p.Ala46=
NM_013988.3:c.137C=	NP_054643.2:p.Ala46=