Canonical Allele Identifier: CA356733257

Gene: UCHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41264109G>T , CM000666.2:g.41264109G>T	GRCh38
NC_000004.11:g.41266126G>T , CM000666.1:g.41266126G>T	GRCh37
NC_000004.10:g.40960883G>T	NCBI36
NG_012931.1:g.12229G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004181.5:c.533G>T MANE Select	NP_004172.2:p.Arg178Leu
ENST00000284440.9:c.533G>T MANE Select	ENSP00000284440.4:p.Arg178Leu
NM_004181.4:c.533G>T	NP_004172.2:p.Arg178Leu
ENST00000284440.8:c.533G>T	ENSP00000284440.4:p.Arg178Leu
ENST00000381760.8:n.1084G>T
ENST00000472501.5:n.1057G>T
ENST00000503431.5:c.533G>T	ENSP00000422542.1:p.Arg178Leu
ENST00000505232.5:c.*58G>T	ENSP00000423348.1:n.*58G>T
ENST00000508768.5:c.485G>T	ENSP00000426895.1:p.Arg162Leu
ENST00000510566.1:n.184G>T
ENST00000512419.5:c.*322G>T	ENSP00000425714.1:n.*322G>T
ENST00000512788.1:c.533G>T	ENSP00000423623.1:p.Arg178Leu
ENST00000514764.5:n.367G>T