Canonical Allele Identifier: CA1080602

Gene: CTSK

Linked Data

• ClinVar Variation Id: 551777
• ClinVar RCV Id: RCV000666918 ; RCV002530701
• dbSNP Id: rs778368118
• ExAC: 1:150779279 C / T
• gnomAD v2: 1-150779279-C-T
• gnomAD v4: 1-150806803-C-T
• MyVariant Identifiers: chr1:g.150779279C>T (hg19) ; chr1:g.150806803C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150806803C>T , CM000663.2:g.150806803C>T	GRCh38
NC_000001.10:g.150779279C>T , CM000663.1:g.150779279C>T	GRCh37
NC_000001.9:g.149045903C>T	NCBI36
NG_011848.1:g.6534G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.3G>A MANE Select	ENSP00000271651.3:p.Met1Ile
ENST00000443913.2:c.180G>A	ENSP00000405083.2:p.Met60Ile
ENST00000480670.2:n.2611G>A
ENST00000676680.1:c.3G>A	ENSP00000503270.1:p.Met1Ile
ENST00000676716.1:c.3G>A	ENSP00000504737.1:p.Met1Ile
ENST00000676751.1:c.3G>A	ENSP00000502964.1:p.Met1Ile
ENST00000676824.1:c.3G>A	ENSP00000504176.1:p.Met1Ile
ENST00000676966.1:c.3G>A	ENSP00000503723.1:p.Met1Ile
ENST00000676970.1:c.3G>A	ENSP00000503832.1:p.Met1Ile
ENST00000677330.1:n.1368G>A
ENST00000677887.1:c.45G>A	ENSP00000503876.1:p.Met15Ile
ENST00000678275.1:c.3G>A	ENSP00000504796.1:p.Met1Ile
ENST00000678337.1:c.39G>A	ENSP00000504759.1:p.Met13Ile
ENST00000678725.1:n.980G>A
ENST00000679090.1:n.127G>A
ENST00000679148.1:n.883G>A
ENST00000679171.1:n.1903G>A
ENST00000679260.1:c.3G>A	ENSP00000504534.1:p.Met1Ile
ENST00000271651.7:c.3G>A	ENSP00000271651.3:p.Met1Ile
ENST00000443913.1:c.180G>A	ENSP00000405083.1:p.Met60Ile
NM_000396.3:c.3G>A	NP_000387.1:p.Met1Ile
NM_000396.4:c.3G>A MANE Select	NP_000387.1:p.Met1Ile