Canonical Allele Identifier: CA342322295

Gene: CTSS

Linked Data

• MyVariant Identifiers: chr1:g.150705527T>G (hg19) ; chr1:g.150733051T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150733051T>G , CM000663.2:g.150733051T>G	GRCh38
NC_000001.10:g.150705527T>G , CM000663.1:g.150705527T>G	GRCh37
NC_000001.9:g.148972151T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368985.8:c.991A>C MANE Select	ENSP00000357981.3:p.Ile331Leu
ENST00000448301.7:c.763A>C	ENSP00000408414.2:p.Ile255Leu
ENST00000472977.7:c.991A>C	ENSP00000475176.2:p.Ile331Leu
ENST00000483930.2:c.*185A>C	ENSP00000475812.2:n.*185A>C
ENST00000607427.2:c.991A>C	ENSP00000475557.2:p.Ile331Leu
ENST00000679512.1:c.888A>C	ENSP00000505113.1:p.Lys296Asn
ENST00000679898.1:c.718A>C	ENSP00000505326.1:p.Ile240Leu
ENST00000680288.1:c.841A>C	ENSP00000506001.1:p.Ile281Leu
ENST00000680311.1:c.*74A>C	ENSP00000505020.1:n.*74A>C
ENST00000680471.1:c.*162A>C	ENSP00000506603.1:n.*162A>C
ENST00000680664.1:c.814A>C	ENSP00000506248.1:p.Ile272Leu
ENST00000680931.1:c.*341A>C	ENSP00000504934.1:n.*341A>C
ENST00000681357.1:n.381A>C
ENST00000681444.1:c.991A>C	ENSP00000505359.1:p.Ile331Leu
ENST00000368985.7:c.991A>C	ENSP00000357981.3:p.Ile331Leu
ENST00000448301.6:c.841A>C	ENSP00000408414.1:p.Ile281Leu
ENST00000472977.6:c.284A>C
ENST00000483930.1:c.539A>C	ENSP00000475812.1:n.539A>C
ENST00000607427.1:c.12A>C
NM_001199739.1:c.841A>C	NP_001186668.1:p.Ile281Leu
NM_004079.4:c.991A>C	NP_004070.3:p.Ile331Leu
NM_004079.5:c.991A>C MANE Select	NP_004070.3:p.Ile331Leu
NM_001199739.2:c.841A>C	NP_001186668.1:p.Ile281Leu