Canonical Allele Identifier: CA16040664

Gene: CTSK

Linked Data

• ClinVar Variation Id: 371240
• ClinVar RCV Id: RCV000412093
• dbSNP Id: rs778368118
• MyVariant Identifiers: chr1:g.150779279C>A (hg19) ; chr1:g.150806803C>A (hg38)

Genomic Alleles

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

Transcript Alleles

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