Canonical Allele Identifier: CA2578791798

Gene: PRKN

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161350022A>G , CM000668.2:g.161350022A>G	GRCh38
NC_000006.11:g.161771054A>G , CM000668.1:g.161771054A>G	GRCh37
NC_000006.10:g.161691044A>G	NCBI36
NG_008289.1:g.1382781T>C
NG_008289.2:g.1382781T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000366898.6:c.*77T>C MANE Select	ENSP00000355865.1:n.*77T>C
ENST00000673871.1:c.1556T>C
ENST00000674006.1:n.860T>C
ENST00000674436.1:n.1111T>C
ENST00000366896.5:c.*77T>C	ENSP00000355862.1:n.*77T>C
ENST00000366897.5:c.*77T>C	ENSP00000355863.1:n.*77T>C
ENST00000366898.5:c.*77T>C	ENSP00000355865.1:n.*77T>C
NM_004562.2:c.*77T>C	NP_004553.2:n.*77T>C
NM_013987.2:c.*77T>C	NP_054642.2:n.*77T>C
NM_013988.2:c.*77T>C	NP_054643.2:n.*77T>C
XM_011535863.1:c.*77T>C	XP_011534165.1:n.*77T>C
XM_017010908.1:c.*77T>C	XP_016866397.1:n.*77T>C
XM_017010909.2:c.*77T>C	XP_016866398.1:n.*77T>C
XM_024446449.1:c.*77T>C	XP_024302217.1:n.*77T>C
XR_001743443.2:n.1667T>C
NM_004562.3:c.*77T>C MANE Select	NP_004553.2:n.*77T>C
NM_013987.3:c.*77T>C	NP_054642.2:n.*77T>C
NM_013988.3:c.*77T>C	NP_054643.2:n.*77T>C