Canonical Allele Identifier: CA342322459

Gene: CTSS

Linked Data

• MyVariant Identifiers: chr1:g.150705598T>G (hg19) ; chr1:g.150733122T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150733122T>G , CM000663.2:g.150733122T>G	GRCh38
NC_000001.10:g.150705598T>G , CM000663.1:g.150705598T>G	GRCh37
NC_000001.9:g.148972222T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368985.8:c.920A>C MANE Select	ENSP00000357981.3:p.Glu307Ala
ENST00000448301.7:c.692A>C	ENSP00000408414.2:p.Glu231Ala
ENST00000472977.7:c.920A>C	ENSP00000475176.2:p.Glu307Ala
ENST00000483930.2:c.*114A>C	ENSP00000475812.2:n.*114A>C
ENST00000607427.2:c.920A>C	ENSP00000475557.2:p.Glu307Ala
ENST00000679512.1:c.817A>C	ENSP00000505113.1:p.Lys273Gln
ENST00000679898.1:c.647A>C	ENSP00000505326.1:p.Glu216Ala
ENST00000680288.1:c.770A>C	ENSP00000506001.1:p.Glu257Ala
ENST00000680311.1:c.*3A>C	ENSP00000505020.1:n.*3A>C
ENST00000680471.1:c.*91A>C	ENSP00000506603.1:n.*91A>C
ENST00000680664.1:c.743A>C	ENSP00000506248.1:p.Glu248Ala
ENST00000680931.1:c.*270A>C	ENSP00000504934.1:n.*270A>C
ENST00000681357.1:n.310A>C
ENST00000681444.1:c.920A>C	ENSP00000505359.1:p.Glu307Ala
ENST00000368985.7:c.920A>C	ENSP00000357981.3:p.Glu307Ala
ENST00000448301.6:c.770A>C	ENSP00000408414.1:p.Glu257Ala
ENST00000472977.6:c.213A>C
ENST00000483930.1:c.468A>C	ENSP00000475812.1:n.468A>C
NM_001199739.1:c.770A>C	NP_001186668.1:p.Glu257Ala
NM_004079.4:c.920A>C	NP_004070.3:p.Glu307Ala
NM_004079.5:c.920A>C MANE Select	NP_004070.3:p.Glu307Ala
NM_001199739.2:c.770A>C	NP_001186668.1:p.Glu257Ala