Canonical Allele Identifier: CA342322439

Gene: CTSS

Linked Data

• MyVariant Identifiers: chr1:g.150705590T>A (hg19) ; chr1:g.150733114T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150733114T>A , CM000663.2:g.150733114T>A	GRCh38
NC_000001.10:g.150705590T>A , CM000663.1:g.150705590T>A	GRCh37
NC_000001.9:g.148972214T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368985.8:c.928A>T MANE Select	ENSP00000357981.3:p.Ile310Phe
ENST00000448301.7:c.700A>T	ENSP00000408414.2:p.Ile234Phe
ENST00000472977.7:c.928A>T	ENSP00000475176.2:p.Ile310Phe
ENST00000483930.2:c.*122A>T	ENSP00000475812.2:n.*122A>T
ENST00000607427.2:c.928A>T	ENSP00000475557.2:p.Ile310Phe
ENST00000679512.1:c.825A>T	ENSP00000505113.1:p.Ile275=
ENST00000679898.1:c.655A>T	ENSP00000505326.1:p.Ile219Phe
ENST00000680288.1:c.778A>T	ENSP00000506001.1:p.Ile260Phe
ENST00000680311.1:c.*11A>T	ENSP00000505020.1:n.*11A>T
ENST00000680471.1:c.*99A>T	ENSP00000506603.1:n.*99A>T
ENST00000680664.1:c.751A>T	ENSP00000506248.1:p.Ile251Phe
ENST00000680931.1:c.*278A>T	ENSP00000504934.1:n.*278A>T
ENST00000681357.1:n.318A>T
ENST00000681444.1:c.928A>T	ENSP00000505359.1:p.Ile310Phe
ENST00000368985.7:c.928A>T	ENSP00000357981.3:p.Ile310Phe
ENST00000448301.6:c.778A>T	ENSP00000408414.1:p.Ile260Phe
ENST00000472977.6:c.221A>T
ENST00000483930.1:c.476A>T	ENSP00000475812.1:n.476A>T
NM_001199739.1:c.778A>T	NP_001186668.1:p.Ile260Phe
NM_004079.4:c.928A>T	NP_004070.3:p.Ile310Phe
NM_004079.5:c.928A>T MANE Select	NP_004070.3:p.Ile310Phe
NM_001199739.2:c.778A>T	NP_001186668.1:p.Ile260Phe