Canonical Allele Identifier: CA30097634

Gene: CTSK

Linked Data

• ClinVar Variation Id: 2114528
• ClinVar RCV Id: RCV003030093
• dbSNP Id: rs935781851
• gnomAD v4: 1-150804004-G-A
• MyVariant Identifiers: chr1:g.150776480G>A (hg19) ; chr1:g.150804004G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804004G>A , CM000663.2:g.150804004G>A	GRCh38
NC_000001.10:g.150776480G>A , CM000663.1:g.150776480G>A	GRCh37
NC_000001.9:g.149043104G>A	NCBI36
NG_011848.1:g.9333C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000271651.8:c.618+17C>T MANE Select	ENSP00000271651.3:n.618+17C>T
ENST00000443913.2:c.795+17C>T	ENSP00000405083.2:n.795+17C>T
ENST00000480670.2:n.3687+17C>T
ENST00000676680.1:c.618+17C>T	ENSP00000503270.1:n.618+17C>T
ENST00000676716.1:c.495+17C>T	ENSP00000504737.1:n.495+17C>T
ENST00000676751.1:c.618+17C>T	ENSP00000502964.1:n.618+17C>T
ENST00000676824.1:c.618+17C>T	ENSP00000504176.1:n.618+17C>T
ENST00000676966.1:c.618+17C>T	ENSP00000503723.1:n.618+17C>T
ENST00000676970.1:c.618+17C>T	ENSP00000503832.1:n.618+17C>T
ENST00000677330.1:n.2444+17C>T
ENST00000677611.1:n.470+17C>T
ENST00000677887.1:c.660+17C>T	ENSP00000503876.1:n.660+17C>T
ENST00000678275.1:c.*510+17C>T	ENSP00000504796.1:n.*510+17C>T
ENST00000678337.1:c.654+17C>T	ENSP00000504759.1:n.654+17C>T
ENST00000678725.1:n.1595+17C>T
ENST00000679090.1:n.1203+17C>T
ENST00000679148.1:n.3580+17C>T
ENST00000679171.1:n.2979+17C>T
ENST00000679260.1:c.399+1857C>T	ENSP00000504534.1:n.399+1857C>T
ENST00000271651.7:c.618+17C>T	ENSP00000271651.3:n.618+17C>T
NM_000396.3:c.618+17C>T	NP_000387.1:n.618+17C>T
NM_000396.4:c.618+17C>T MANE Select	NP_000387.1:n.618+17C>T