Canonical Allele Identifier: CA342336532

Gene: CTSK

Linked Data

• MyVariant Identifiers: chr1:g.150776592C>T (hg19) ; chr1:g.150804116C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804116C>T , CM000663.2:g.150804116C>T	GRCh38
NC_000001.10:g.150776592C>T , CM000663.1:g.150776592C>T	GRCh37
NC_000001.9:g.149043216C>T	NCBI36
NG_011848.1:g.9221G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000271651.8:c.523G>A MANE Select	ENSP00000271651.3:p.Asp175Asn
ENST00000443913.2:c.700G>A	ENSP00000405083.2:p.Asp234Asn
ENST00000480670.2:n.3592G>A
ENST00000676680.1:c.523G>A	ENSP00000503270.1:p.Asp175Asn
ENST00000676716.1:c.400G>A	ENSP00000504737.1:p.Asp134Asn
ENST00000676751.1:c.523G>A	ENSP00000502964.1:p.Asp175Asn
ENST00000676824.1:c.523G>A	ENSP00000504176.1:p.Asp175Asn
ENST00000676966.1:c.523G>A	ENSP00000503723.1:p.Asp175Asn
ENST00000676970.1:c.523G>A	ENSP00000503832.1:p.Asp175Asn
ENST00000677330.1:n.2349G>A
ENST00000677611.1:n.375G>A
ENST00000677887.1:c.565G>A	ENSP00000503876.1:p.Asp189Asn
ENST00000678275.1:c.*415G>A	ENSP00000504796.1:n.*415G>A
ENST00000678337.1:c.559G>A	ENSP00000504759.1:p.Asp187Asn
ENST00000678725.1:n.1500G>A
ENST00000679090.1:n.1108G>A
ENST00000679148.1:n.3485G>A
ENST00000679171.1:n.2884G>A
ENST00000679260.1:c.399+1745G>A	ENSP00000504534.1:n.399+1745G>A
ENST00000271651.7:c.523G>A	ENSP00000271651.3:p.Asp175Asn
ENST00000443913.1:c.700G>A	ENSP00000405083.1:p.Asp234Asn
ENST00000480670.1:n.363G>A
NM_000396.3:c.523G>A	NP_000387.1:p.Asp175Asn
NM_000396.4:c.523G>A MANE Select	NP_000387.1:p.Asp175Asn