Canonical Allele Identifier: CA342322512

Gene: CTSS

Linked Data

• MyVariant Identifiers: chr1:g.150705620A>G (hg19) ; chr1:g.150733144A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150733144A>G , CM000663.2:g.150733144A>G	GRCh38
NC_000001.10:g.150705620A>G , CM000663.1:g.150705620A>G	GRCh37
NC_000001.9:g.148972244A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368985.8:c.898T>C MANE Select	ENSP00000357981.3:p.Trp300Arg
ENST00000448301.7:c.670T>C	ENSP00000408414.2:p.Trp224Arg
ENST00000472977.7:c.898T>C	ENSP00000475176.2:p.Trp300Arg
ENST00000483930.2:c.*92T>C	ENSP00000475812.2:n.*92T>C
ENST00000607427.2:c.898T>C	ENSP00000475557.2:p.Trp300Arg
ENST00000679512.1:c.795T>C	ENSP00000505113.1:p.Ala265=
ENST00000679898.1:c.625T>C	ENSP00000505326.1:p.Trp209Arg
ENST00000680288.1:c.748T>C	ENSP00000506001.1:p.Trp250Arg
ENST00000680311.1:c.629T>C	ENSP00000505020.1:p.Leu210Pro
ENST00000680471.1:c.*69T>C	ENSP00000506603.1:n.*69T>C
ENST00000680664.1:c.721T>C	ENSP00000506248.1:p.Trp241Arg
ENST00000680931.1:c.*248T>C	ENSP00000504934.1:n.*248T>C
ENST00000681357.1:n.288T>C
ENST00000681444.1:c.898T>C	ENSP00000505359.1:p.Trp300Arg
ENST00000368985.7:c.898T>C	ENSP00000357981.3:p.Trp300Arg
ENST00000448301.6:c.748T>C	ENSP00000408414.1:p.Trp250Arg
ENST00000472977.6:c.191T>C
ENST00000483930.1:c.446T>C	ENSP00000475812.1:n.446T>C
NM_001199739.1:c.748T>C	NP_001186668.1:p.Trp250Arg
NM_004079.4:c.898T>C	NP_004070.3:p.Trp300Arg
NM_004079.5:c.898T>C MANE Select	NP_004070.3:p.Trp300Arg
NM_001199739.2:c.748T>C	NP_001186668.1:p.Trp250Arg