Canonical Allele Identifier: CA356734109

Gene: UCHL1

Linked Data

• MyVariant Identifiers: chr4:g.41270077G>T (hg19) ; chr4:g.41268060G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41268060G>T , CM000666.2:g.41268060G>T	GRCh38
NC_000004.11:g.41270077G>T , CM000666.1:g.41270077G>T	GRCh37
NC_000004.10:g.40964834G>T	NCBI36
NG_012931.1:g.16180G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284440.9:c.659G>T MANE Select	ENSP00000284440.4:p.Cys220Phe
ENST00000284440.8:c.659G>T	ENSP00000284440.4:p.Cys220Phe
ENST00000381760.8:n.1210G>T
ENST00000472501.5:n.1183G>T
ENST00000503431.5:c.659G>T	ENSP00000422542.1:p.Cys220Phe
ENST00000505232.5:c.*184G>T	ENSP00000423348.1:n.*184G>T
ENST00000508768.5:c.611G>T	ENSP00000426895.1:p.Cys204Phe
ENST00000512419.5:c.*448G>T	ENSP00000425714.1:n.*448G>T
ENST00000512788.1:c.688G>T	ENSP00000423623.1:p.Ala230Ser
ENST00000514764.5:n.493G>T
NM_004181.4:c.659G>T	NP_004172.2:p.Cys220Phe
NM_004181.5:c.659G>T MANE Select	NP_004172.2:p.Cys220Phe