Canonical Allele Identifier: CA420701484

Gene: CTSK

Linked Data

• dbSNP Id: rs1334935822
• gnomAD v2: 1-150779234-C-T
• gnomAD v4: 1-150806758-C-T
• MyVariant Identifiers: chr1:g.150779234C>T (hg19) ; chr1:g.150806758C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150806758C>T , CM000663.2:g.150806758C>T	GRCh38
NC_000001.10:g.150779234C>T , CM000663.1:g.150779234C>T	GRCh37
NC_000001.9:g.149045858C>T	NCBI36
NG_011848.1:g.6579G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000271651.8:c.48G>A MANE Select	ENSP00000271651.3:p.Leu16=
ENST00000443913.2:c.225G>A	ENSP00000405083.2:p.Leu75=
ENST00000480670.2:n.2656G>A
ENST00000676680.1:c.48G>A	ENSP00000503270.1:p.Leu16=
ENST00000676716.1:c.48G>A	ENSP00000504737.1:p.Leu16=
ENST00000676751.1:c.48G>A	ENSP00000502964.1:p.Leu16=
ENST00000676824.1:c.48G>A	ENSP00000504176.1:p.Leu16=
ENST00000676966.1:c.48G>A	ENSP00000503723.1:p.Leu16=
ENST00000676970.1:c.48G>A	ENSP00000503832.1:p.Leu16=
ENST00000677330.1:n.1413G>A
ENST00000677887.1:c.90G>A	ENSP00000503876.1:p.Leu30=
ENST00000678275.1:c.48G>A	ENSP00000504796.1:p.Leu16=
ENST00000678337.1:c.84G>A	ENSP00000504759.1:p.Leu28=
ENST00000678725.1:n.1025G>A
ENST00000679090.1:n.172G>A
ENST00000679148.1:n.928G>A
ENST00000679171.1:n.1948G>A
ENST00000679260.1:c.48G>A	ENSP00000504534.1:p.Leu16=
ENST00000271651.7:c.48G>A	ENSP00000271651.3:p.Leu16=
ENST00000443913.1:c.225G>A	ENSP00000405083.1:p.Leu75=
ENST00000480670.1:n.11G>A
NM_000396.3:c.48G>A	NP_000387.1:p.Leu16=
NM_000396.4:c.48G>A MANE Select	NP_000387.1:p.Leu16=