Canonical Allele Identifier: CA342336614

Gene: CTSK

Linked Data

• MyVariant Identifiers: chr1:g.150776630A>C (hg19) ; chr1:g.150804154A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804154A>C , CM000663.2:g.150804154A>C	GRCh38
NC_000001.10:g.150776630A>C , CM000663.1:g.150776630A>C	GRCh37
NC_000001.9:g.149043254A>C	NCBI36
NG_011848.1:g.9183T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.485T>G MANE Select	ENSP00000271651.3:p.Leu162Arg
ENST00000443913.2:c.662T>G	ENSP00000405083.2:p.Leu221Arg
ENST00000480670.2:n.3554T>G
ENST00000676680.1:c.485T>G	ENSP00000503270.1:p.Leu162Arg
ENST00000676716.1:c.362T>G	ENSP00000504737.1:p.Leu121Arg
ENST00000676751.1:c.485T>G	ENSP00000502964.1:p.Leu162Arg
ENST00000676824.1:c.485T>G	ENSP00000504176.1:p.Leu162Arg
ENST00000676966.1:c.485T>G	ENSP00000503723.1:p.Leu162Arg
ENST00000676970.1:c.485T>G	ENSP00000503832.1:p.Leu162Arg
ENST00000677330.1:n.2311T>G
ENST00000677611.1:n.337T>G
ENST00000677887.1:c.527T>G	ENSP00000503876.1:p.Leu176Arg
ENST00000678275.1:c.*377T>G	ENSP00000504796.1:n.*377T>G
ENST00000678337.1:c.521T>G	ENSP00000504759.1:p.Leu174Arg
ENST00000678725.1:n.1462T>G
ENST00000679090.1:n.1070T>G
ENST00000679148.1:n.3447T>G
ENST00000679171.1:n.2846T>G
ENST00000679260.1:c.399+1707T>G	ENSP00000504534.1:n.399+1707T>G
ENST00000271651.7:c.485T>G	ENSP00000271651.3:p.Leu162Arg
ENST00000443913.1:c.662T>G	ENSP00000405083.1:p.Leu221Arg
ENST00000480670.1:n.325T>G
NM_000396.3:c.485T>G	NP_000387.1:p.Leu162Arg
NM_000396.4:c.485T>G MANE Select	NP_000387.1:p.Leu162Arg