Canonical Allele Identifier: CA6772031

Gene: USP30

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109082898C>T , CM000674.2:g.109082898C>T	GRCh38
NC_000012.11:g.109520703C>T , CM000674.1:g.109520703C>T	GRCh37
NC_000012.10:g.108005086C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257548.10:c.1004C>T MANE Select	ENSP00000257548.5:p.Thr335Met
ENST00000257548.9:c.1004C>T	ENSP00000257548.5:p.Thr335Met
ENST00000377883.7:c.*603C>T	ENSP00000473942.1:n.*603C>T
ENST00000392784.6:c.911C>T	ENSP00000376535.2:p.Thr304Met
ENST00000479219.5:n.264C>T
ENST00000491362.1:n.204C>T
NM_001301175.1:c.911C>T	NP_001288104.1:p.Thr304Met
NM_032663.4:c.1004C>T	NP_116052.2:p.Thr335Met
XM_005253962.2:c.1001C>T	XP_005254019.1:p.Thr334Met
XM_005253963.2:c.926C>T	XP_005254020.1:p.Thr309Met
XM_005253965.3:c.821C>T	XP_005254022.1:p.Thr274Met
XM_006719653.2:c.911C>T	XP_006719716.1:p.Thr304Met
XM_011538894.1:c.557C>T	XP_011537196.1:p.Thr186Met
XM_005253962.3:c.1001C>T	XP_005254019.1:p.Thr334Met
XM_005253965.4:c.821C>T	XP_005254022.1:p.Thr274Met
XM_006719653.3:c.911C>T	XP_006719716.1:p.Thr304Met
XM_011538894.2:c.557C>T	XP_011537196.1:p.Thr186Met
XM_017020048.1:c.1004C>T	XP_016875537.1:p.Thr335Met
XM_017020049.1:c.1001C>T	XP_016875538.1:p.Thr334Met
XM_017020050.1:c.911C>T	XP_016875539.1:p.Thr304Met
XM_017020051.2:c.911C>T	XP_016875540.1:p.Thr304Met
XM_017020052.2:c.911C>T	XP_016875541.1:p.Thr304Met
XM_017020053.1:c.821C>T	XP_016875542.1:p.Thr274Met
XM_017020054.1:c.557C>T	XP_016875543.1:p.Thr186Met
XM_024449227.1:c.1103C>T	XP_024304995.1:p.Thr368Met
XM_024449228.1:c.728C>T	XP_024304996.1:p.Thr243Met
NM_032663.5:c.1004C>T MANE Select	NP_116052.2:p.Thr335Met
NM_001301175.2:c.911C>T	NP_001288104.1:p.Thr304Met