Canonical Allele Identifier: CA356734139

Gene: UCHL1

Linked Data

• MyVariant Identifiers: chr4:g.41270088T>A (hg19) ; chr4:g.41268071T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41268071T>A , CM000666.2:g.41268071T>A	GRCh38
NC_000004.11:g.41270088T>A , CM000666.1:g.41270088T>A	GRCh37
NC_000004.10:g.40964845T>A	NCBI36
NG_012931.1:g.16191T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284440.9:c.670T>A MANE Select	ENSP00000284440.4:p.Ter224Lys
ENST00000284440.8:c.670T>A	ENSP00000284440.4:p.Ter224Lys
ENST00000381760.8:n.1221T>A
ENST00000472501.5:n.1194T>A
ENST00000503431.5:c.670T>A	ENSP00000422542.1:p.Ter224Lys
ENST00000505232.5:c.*195T>A	ENSP00000423348.1:n.*195T>A
ENST00000508768.5:c.622T>A	ENSP00000426895.1:p.Ter208Lys
ENST00000512419.5:c.*459T>A	ENSP00000425714.1:n.*459T>A
ENST00000512788.1:c.699T>A	ENSP00000423623.1:p.Pro233=
ENST00000514764.5:n.504T>A
NM_004181.4:c.670T>A	NP_004172.2:p.Ter224Lys
NM_004181.5:c.670T>A MANE Select	NP_004172.2:p.Ter224Lys