Canonical Allele Identifier: CA342322508

Gene: CTSS

Linked Data

• MyVariant Identifiers: chr1:g.150705619C>A (hg19) ; chr1:g.150733143C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150733143C>A , CM000663.2:g.150733143C>A	GRCh38
NC_000001.10:g.150705619C>A , CM000663.1:g.150705619C>A	GRCh37
NC_000001.9:g.148972243C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368985.8:c.899G>T MANE Select	ENSP00000357981.3:p.Trp300Leu
ENST00000448301.7:c.671G>T	ENSP00000408414.2:p.Trp224Leu
ENST00000472977.7:c.899G>T	ENSP00000475176.2:p.Trp300Leu
ENST00000483930.2:c.*93G>T	ENSP00000475812.2:n.*93G>T
ENST00000607427.2:c.899G>T	ENSP00000475557.2:p.Trp300Leu
ENST00000679512.1:c.796G>T	ENSP00000505113.1:p.Gly266Trp
ENST00000679898.1:c.626G>T	ENSP00000505326.1:p.Trp209Leu
ENST00000680288.1:c.749G>T	ENSP00000506001.1:p.Trp250Leu
ENST00000680311.1:c.630G>T	ENSP00000505020.1:p.Leu210=
ENST00000680471.1:c.*70G>T	ENSP00000506603.1:n.*70G>T
ENST00000680664.1:c.722G>T	ENSP00000506248.1:p.Trp241Leu
ENST00000680931.1:c.*249G>T	ENSP00000504934.1:n.*249G>T
ENST00000681357.1:n.289G>T
ENST00000681444.1:c.899G>T	ENSP00000505359.1:p.Trp300Leu
ENST00000368985.7:c.899G>T	ENSP00000357981.3:p.Trp300Leu
ENST00000448301.6:c.749G>T	ENSP00000408414.1:p.Trp250Leu
ENST00000472977.6:c.192G>T
ENST00000483930.1:c.447G>T	ENSP00000475812.1:n.447G>T
NM_001199739.1:c.749G>T	NP_001186668.1:p.Trp250Leu
NM_004079.4:c.899G>T	NP_004070.3:p.Trp300Leu
NM_004079.5:c.899G>T MANE Select	NP_004070.3:p.Trp300Leu
NM_001199739.2:c.749G>T	NP_001186668.1:p.Trp250Leu