Canonical Allele Identifier: CA342327374

Gene: CTSS

Linked Data

• MyVariant Identifiers: chr1:g.150722586A>C (hg19) ; chr1:g.150750110A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150750110A>C , CM000663.2:g.150750110A>C	GRCh38
NC_000001.10:g.150722586A>C , CM000663.1:g.150722586A>C	GRCh37
NC_000001.9:g.148989210A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000368985.8:c.689T>G MANE Select	ENSP00000357981.3:p.Leu230Arg
ENST00000448301.7:c.461T>G	ENSP00000408414.2:p.Leu154Arg
ENST00000472977.7:c.689T>G	ENSP00000475176.2:p.Leu230Arg
ENST00000483930.2:c.689T>G	ENSP00000475812.2:p.Leu230Arg
ENST00000607427.2:c.689T>G	ENSP00000475557.2:p.Leu230Arg
ENST00000679512.1:c.689T>G	ENSP00000505113.1:p.Leu230Arg
ENST00000679898.1:c.416T>G	ENSP00000505326.1:p.Leu139Arg
ENST00000680288.1:c.539T>G	ENSP00000506001.1:p.Leu180Arg
ENST00000680311.1:c.627+1671T>G	ENSP00000505020.1:n.627+1671T>G
ENST00000680471.1:c.627+1671T>G	ENSP00000506603.1:n.627+1671T>G
ENST00000680664.1:c.512T>G	ENSP00000506248.1:p.Leu171Arg
ENST00000680931.1:c.689T>G	ENSP00000504934.1:p.Leu230Arg
ENST00000681444.1:c.689T>G	ENSP00000505359.1:p.Leu230Arg
ENST00000681728.1:c.689T>G	ENSP00000505313.1:p.Leu230Arg
ENST00000368985.7:c.689T>G	ENSP00000357981.3:p.Leu230Arg
ENST00000448301.6:c.539T>G	ENSP00000408414.1:p.Leu180Arg
ENST00000480760.1:n.566+1671T>G
ENST00000483930.1:c.116T>G	ENSP00000475812.1:p.Leu39Arg
NM_001199739.1:c.539T>G	NP_001186668.1:p.Leu180Arg
NM_004079.4:c.689T>G	NP_004070.3:p.Leu230Arg
NM_004079.5:c.689T>G MANE Select	NP_004070.3:p.Leu230Arg
NM_001199739.2:c.539T>G	NP_001186668.1:p.Leu180Arg