Canonical Allele Identifier: CA342322412

Gene: CTSS

Linked Data

• MyVariant Identifiers: chr1:g.150705577C>A (hg19) ; chr1:g.150733101C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150733101C>A , CM000663.2:g.150733101C>A	GRCh38
NC_000001.10:g.150705577C>A , CM000663.1:g.150705577C>A	GRCh37
NC_000001.9:g.148972201C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368985.8:c.941G>T MANE Select	ENSP00000357981.3:p.Arg314Ile
ENST00000448301.7:c.713G>T	ENSP00000408414.2:p.Arg238Ile
ENST00000472977.7:c.941G>T	ENSP00000475176.2:p.Arg314Ile
ENST00000483930.2:c.*135G>T	ENSP00000475812.2:n.*135G>T
ENST00000607427.2:c.941G>T	ENSP00000475557.2:p.Arg314Ile
ENST00000679512.1:c.838G>T	ENSP00000505113.1:p.Glu280Ter
ENST00000679898.1:c.668G>T	ENSP00000505326.1:p.Arg223Ile
ENST00000680288.1:c.791G>T	ENSP00000506001.1:p.Arg264Ile
ENST00000680311.1:c.*24G>T	ENSP00000505020.1:n.*24G>T
ENST00000680471.1:c.*112G>T	ENSP00000506603.1:n.*112G>T
ENST00000680664.1:c.764G>T	ENSP00000506248.1:p.Arg255Ile
ENST00000680931.1:c.*291G>T	ENSP00000504934.1:n.*291G>T
ENST00000681357.1:n.331G>T
ENST00000681444.1:c.941G>T	ENSP00000505359.1:p.Arg314Ile
ENST00000368985.7:c.941G>T	ENSP00000357981.3:p.Arg314Ile
ENST00000448301.6:c.791G>T	ENSP00000408414.1:p.Arg264Ile
ENST00000472977.6:c.234G>T
ENST00000483930.1:c.489G>T	ENSP00000475812.1:n.489G>T
NM_001199739.1:c.791G>T	NP_001186668.1:p.Arg264Ile
NM_004079.4:c.941G>T	NP_004070.3:p.Arg314Ile
NM_004079.5:c.941G>T MANE Select	NP_004070.3:p.Arg314Ile
NM_001199739.2:c.791G>T	NP_001186668.1:p.Arg264Ile