Canonical Allele Identifier: CA420696571

Gene: CTSS

Linked Data

• dbSNP Id: rs1461056222
• gnomAD v2: 1-150705579-T-G
• gnomAD v3: 1-150733103-T-G
• gnomAD v4: 1-150733103-T-G
• MyVariant Identifiers: chr1:g.150705579T>G (hg19) ; chr1:g.150733103T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150733103T>G , CM000663.2:g.150733103T>G	GRCh38
NC_000001.10:g.150705579T>G , CM000663.1:g.150705579T>G	GRCh37
NC_000001.9:g.148972203T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368985.8:c.939A>C MANE Select	ENSP00000357981.3:p.Ala313=
ENST00000448301.7:c.711A>C	ENSP00000408414.2:p.Ala237=
ENST00000472977.7:c.939A>C	ENSP00000475176.2:p.Ala313=
ENST00000483930.2:c.*133A>C	ENSP00000475812.2:n.*133A>C
ENST00000607427.2:c.939A>C	ENSP00000475557.2:p.Ala313=
ENST00000679512.1:c.836A>C	ENSP00000505113.1:p.Gln279Pro
ENST00000679898.1:c.666A>C	ENSP00000505326.1:p.Ala222=
ENST00000680288.1:c.789A>C	ENSP00000506001.1:p.Ala263=
ENST00000680311.1:c.*22A>C	ENSP00000505020.1:n.*22A>C
ENST00000680471.1:c.*110A>C	ENSP00000506603.1:n.*110A>C
ENST00000680664.1:c.762A>C	ENSP00000506248.1:p.Ala254=
ENST00000680931.1:c.*289A>C	ENSP00000504934.1:n.*289A>C
ENST00000681357.1:n.329A>C
ENST00000681444.1:c.939A>C	ENSP00000505359.1:p.Ala313=
ENST00000368985.7:c.939A>C	ENSP00000357981.3:p.Ala313=
ENST00000448301.6:c.789A>C	ENSP00000408414.1:p.Ala263=
ENST00000472977.6:c.232A>C
ENST00000483930.1:c.487A>C	ENSP00000475812.1:n.487A>C
NM_001199739.1:c.789A>C	NP_001186668.1:p.Ala263=
NM_004079.4:c.939A>C	NP_004070.3:p.Ala313=
NM_004079.5:c.939A>C MANE Select	NP_004070.3:p.Ala313=
NM_001199739.2:c.789A>C	NP_001186668.1:p.Ala263=