Canonical Allele Identifier: CA342322483

Gene: CTSS

Linked Data

• gnomAD v4: 1-150733132-A-G
• MyVariant Identifiers: chr1:g.150705608A>G (hg19) ; chr1:g.150733132A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150733132A>G , CM000663.2:g.150733132A>G	GRCh38
NC_000001.10:g.150705608A>G , CM000663.1:g.150705608A>G	GRCh37
NC_000001.9:g.148972232A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368985.8:c.910T>C MANE Select	ENSP00000357981.3:p.Phe304Leu
ENST00000448301.7:c.682T>C	ENSP00000408414.2:p.Phe228Leu
ENST00000472977.7:c.910T>C	ENSP00000475176.2:p.Phe304Leu
ENST00000483930.2:c.*104T>C	ENSP00000475812.2:n.*104T>C
ENST00000607427.2:c.910T>C	ENSP00000475557.2:p.Phe304Leu
ENST00000679512.1:c.807T>C	ENSP00000505113.1:p.Thr269=
ENST00000679898.1:c.637T>C	ENSP00000505326.1:p.Phe213Leu
ENST00000680288.1:c.760T>C	ENSP00000506001.1:p.Phe254Leu
ENST00000680311.1:c.641T>C	ENSP00000505020.1:p.Leu214Pro
ENST00000680471.1:c.*81T>C	ENSP00000506603.1:n.*81T>C
ENST00000680664.1:c.733T>C	ENSP00000506248.1:p.Phe245Leu
ENST00000680931.1:c.*260T>C	ENSP00000504934.1:n.*260T>C
ENST00000681357.1:n.300T>C
ENST00000681444.1:c.910T>C	ENSP00000505359.1:p.Phe304Leu
ENST00000368985.7:c.910T>C	ENSP00000357981.3:p.Phe304Leu
ENST00000448301.6:c.760T>C	ENSP00000408414.1:p.Phe254Leu
ENST00000472977.6:c.203T>C
ENST00000483930.1:c.458T>C	ENSP00000475812.1:n.458T>C
NM_001199739.1:c.760T>C	NP_001186668.1:p.Phe254Leu
NM_004079.4:c.910T>C	NP_004070.3:p.Phe304Leu
NM_004079.5:c.910T>C MANE Select	NP_004070.3:p.Phe304Leu
NM_001199739.2:c.760T>C	NP_001186668.1:p.Phe254Leu