Canonical Allele Identifier: CA342336323

Gene: CTSK

Linked Data

• gnomAD v4: 1-150804022-T-A
• MyVariant Identifiers: chr1:g.150776498T>A (hg19) ; chr1:g.150804022T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804022T>A , CM000663.2:g.150804022T>A	GRCh38
NC_000001.10:g.150776498T>A , CM000663.1:g.150776498T>A	GRCh37
NC_000001.9:g.149043122T>A	NCBI36
NG_011848.1:g.9315A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.617A>T MANE Select	ENSP00000271651.3:p.Gln206Leu
ENST00000443913.2:c.794A>T	ENSP00000405083.2:p.Gln265Leu
ENST00000480670.2:n.3686A>T
ENST00000676680.1:c.617A>T	ENSP00000503270.1:p.Gln206Leu
ENST00000676716.1:c.494A>T	ENSP00000504737.1:p.Gln165Leu
ENST00000676751.1:c.617A>T	ENSP00000502964.1:p.Gln206Leu
ENST00000676824.1:c.617A>T	ENSP00000504176.1:p.Gln206Leu
ENST00000676966.1:c.617A>T	ENSP00000503723.1:p.Gln206Leu
ENST00000676970.1:c.617A>T	ENSP00000503832.1:p.Gln206Leu
ENST00000677330.1:n.2443A>T
ENST00000677611.1:n.469A>T
ENST00000677887.1:c.659A>T	ENSP00000503876.1:p.Gln220Leu
ENST00000678275.1:c.*509A>T	ENSP00000504796.1:n.*509A>T
ENST00000678337.1:c.653A>T	ENSP00000504759.1:p.Gln218Leu
ENST00000678725.1:n.1594A>T
ENST00000679090.1:n.1202A>T
ENST00000679148.1:n.3579A>T
ENST00000679171.1:n.2978A>T
ENST00000679260.1:c.399+1839A>T	ENSP00000504534.1:n.399+1839A>T
ENST00000271651.7:c.617A>T	ENSP00000271651.3:p.Gln206Leu
ENST00000480670.1:n.457A>T
NM_000396.3:c.617A>T	NP_000387.1:p.Gln206Leu
NM_000396.4:c.617A>T MANE Select	NP_000387.1:p.Gln206Leu