Canonical Allele Identifier: CA342327379

Gene: CTSS

Linked Data

• MyVariant Identifiers: chr1:g.150722587G>A (hg19) ; chr1:g.150750111G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150750111G>A , CM000663.2:g.150750111G>A	GRCh38
NC_000001.10:g.150722587G>A , CM000663.1:g.150722587G>A	GRCh37
NC_000001.9:g.148989211G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000368985.8:c.688C>T MANE Select	ENSP00000357981.3:p.Leu230Phe
ENST00000448301.7:c.460C>T	ENSP00000408414.2:p.Leu154Phe
ENST00000472977.7:c.688C>T	ENSP00000475176.2:p.Leu230Phe
ENST00000483930.2:c.688C>T	ENSP00000475812.2:p.Leu230Phe
ENST00000607427.2:c.688C>T	ENSP00000475557.2:p.Leu230Phe
ENST00000679512.1:c.688C>T	ENSP00000505113.1:p.Leu230Phe
ENST00000679898.1:c.415C>T	ENSP00000505326.1:p.Leu139Phe
ENST00000680288.1:c.538C>T	ENSP00000506001.1:p.Leu180Phe
ENST00000680311.1:c.627+1670C>T	ENSP00000505020.1:n.627+1670C>T
ENST00000680471.1:c.627+1670C>T	ENSP00000506603.1:n.627+1670C>T
ENST00000680664.1:c.511C>T	ENSP00000506248.1:p.Leu171Phe
ENST00000680931.1:c.688C>T	ENSP00000504934.1:p.Leu230Phe
ENST00000681444.1:c.688C>T	ENSP00000505359.1:p.Leu230Phe
ENST00000681728.1:c.688C>T	ENSP00000505313.1:p.Leu230Phe
ENST00000368985.7:c.688C>T	ENSP00000357981.3:p.Leu230Phe
ENST00000448301.6:c.538C>T	ENSP00000408414.1:p.Leu180Phe
ENST00000480760.1:n.566+1670C>T
ENST00000483930.1:c.115C>T	ENSP00000475812.1:p.Leu39Phe
NM_001199739.1:c.538C>T	NP_001186668.1:p.Leu180Phe
NM_004079.4:c.688C>T	NP_004070.3:p.Leu230Phe
NM_004079.5:c.688C>T MANE Select	NP_004070.3:p.Leu230Phe
NM_001199739.2:c.538C>T	NP_001186668.1:p.Leu180Phe