Canonical Allele Identifier: CA1080486

Gene: CTSK

Linked Data

• ClinVar Variation Id: 1161379
• ClinVar RCV Id: RCV001505867
• dbSNP Id: rs746908265
• ExAC: 1:150776515 G / A
• gnomAD v2: 1-150776515-G-A
• gnomAD v3: 1-150804039-G-A
• gnomAD v4: 1-150804039-G-A
• MyVariant Identifiers: chr1:g.150776515G>A (hg19) ; chr1:g.150804039G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804039G>A , CM000663.2:g.150804039G>A	GRCh38
NC_000001.10:g.150776515G>A , CM000663.1:g.150776515G>A	GRCh37
NC_000001.9:g.149043139G>A	NCBI36
NG_011848.1:g.9298C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.600C>T MANE Select	ENSP00000271651.3:p.Ala200=
ENST00000443913.2:c.777C>T	ENSP00000405083.2:p.Ala259=
ENST00000480670.2:n.3669C>T
ENST00000676680.1:c.600C>T	ENSP00000503270.1:p.Ala200=
ENST00000676716.1:c.477C>T	ENSP00000504737.1:p.Ala159=
ENST00000676751.1:c.600C>T	ENSP00000502964.1:p.Ala200=
ENST00000676824.1:c.600C>T	ENSP00000504176.1:p.Ala200=
ENST00000676966.1:c.600C>T	ENSP00000503723.1:p.Ala200=
ENST00000676970.1:c.600C>T	ENSP00000503832.1:p.Ala200=
ENST00000677330.1:n.2426C>T
ENST00000677611.1:n.452C>T
ENST00000677887.1:c.642C>T	ENSP00000503876.1:p.Ala214=
ENST00000678275.1:c.*492C>T	ENSP00000504796.1:n.*492C>T
ENST00000678337.1:c.636C>T	ENSP00000504759.1:p.Ala212=
ENST00000678725.1:n.1577C>T
ENST00000679090.1:n.1185C>T
ENST00000679148.1:n.3562C>T
ENST00000679171.1:n.2961C>T
ENST00000679260.1:c.399+1822C>T	ENSP00000504534.1:n.399+1822C>T
ENST00000271651.7:c.600C>T	ENSP00000271651.3:p.Ala200=
ENST00000480670.1:n.440C>T
NM_000396.3:c.600C>T	NP_000387.1:p.Ala200=
NM_000396.4:c.600C>T MANE Select	NP_000387.1:p.Ala200=