Canonical Allele Identifier: CA342322376

Gene: CTSS

Linked Data

• gnomAD v4: 1-150733086-T-G
• MyVariant Identifiers: chr1:g.150705562T>G (hg19) ; chr1:g.150733086T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150733086T>G , CM000663.2:g.150733086T>G	GRCh38
NC_000001.10:g.150705562T>G , CM000663.1:g.150705562T>G	GRCh37
NC_000001.9:g.148972186T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368985.8:c.956A>C MANE Select	ENSP00000357981.3:p.His319Pro
ENST00000448301.7:c.728A>C	ENSP00000408414.2:p.His243Pro
ENST00000472977.7:c.956A>C	ENSP00000475176.2:p.His319Pro
ENST00000483930.2:c.*150A>C	ENSP00000475812.2:n.*150A>C
ENST00000607427.2:c.956A>C	ENSP00000475557.2:p.His319Pro
ENST00000679512.1:c.853A>C	ENSP00000505113.1:p.Ile285Leu
ENST00000679898.1:c.683A>C	ENSP00000505326.1:p.His228Pro
ENST00000680288.1:c.806A>C	ENSP00000506001.1:p.His269Pro
ENST00000680311.1:c.*39A>C	ENSP00000505020.1:n.*39A>C
ENST00000680471.1:c.*127A>C	ENSP00000506603.1:n.*127A>C
ENST00000680664.1:c.779A>C	ENSP00000506248.1:p.His260Pro
ENST00000680931.1:c.*306A>C	ENSP00000504934.1:n.*306A>C
ENST00000681357.1:n.346A>C
ENST00000681444.1:c.956A>C	ENSP00000505359.1:p.His319Pro
ENST00000368985.7:c.956A>C	ENSP00000357981.3:p.His319Pro
ENST00000448301.6:c.806A>C	ENSP00000408414.1:p.His269Pro
ENST00000472977.6:c.249A>C
ENST00000483930.1:c.504A>C	ENSP00000475812.1:n.504A>C
NM_001199739.1:c.806A>C	NP_001186668.1:p.His269Pro
NM_004079.4:c.956A>C	NP_004070.3:p.His319Pro
NM_004079.5:c.956A>C MANE Select	NP_004070.3:p.His319Pro
NM_001199739.2:c.806A>C	NP_001186668.1:p.His269Pro