Canonical Allele Identifier: CA342336557

Gene: CTSK

Linked Data

• MyVariant Identifiers: chr1:g.150776604C>A (hg19) ; chr1:g.150804128C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804128C>A , CM000663.2:g.150804128C>A	GRCh38
NC_000001.10:g.150776604C>A , CM000663.1:g.150776604C>A	GRCh37
NC_000001.9:g.149043228C>A	NCBI36
NG_011848.1:g.9209G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.511G>T MANE Select	ENSP00000271651.3:p.Val171Leu
ENST00000443913.2:c.688G>T	ENSP00000405083.2:p.Val230Leu
ENST00000480670.2:n.3580G>T
ENST00000676680.1:c.511G>T	ENSP00000503270.1:p.Val171Leu
ENST00000676716.1:c.388G>T	ENSP00000504737.1:p.Val130Leu
ENST00000676751.1:c.511G>T	ENSP00000502964.1:p.Val171Leu
ENST00000676824.1:c.511G>T	ENSP00000504176.1:p.Val171Leu
ENST00000676966.1:c.511G>T	ENSP00000503723.1:p.Val171Leu
ENST00000676970.1:c.511G>T	ENSP00000503832.1:p.Val171Leu
ENST00000677330.1:n.2337G>T
ENST00000677611.1:n.363G>T
ENST00000677887.1:c.553G>T	ENSP00000503876.1:p.Val185Leu
ENST00000678275.1:c.*403G>T	ENSP00000504796.1:n.*403G>T
ENST00000678337.1:c.547G>T	ENSP00000504759.1:p.Val183Leu
ENST00000678725.1:n.1488G>T
ENST00000679090.1:n.1096G>T
ENST00000679148.1:n.3473G>T
ENST00000679171.1:n.2872G>T
ENST00000679260.1:c.399+1733G>T	ENSP00000504534.1:n.399+1733G>T
ENST00000271651.7:c.511G>T	ENSP00000271651.3:p.Val171Leu
ENST00000443913.1:c.688G>T	ENSP00000405083.1:p.Val230Leu
ENST00000480670.1:n.351G>T
NM_000396.3:c.511G>T	NP_000387.1:p.Val171Leu
NM_000396.4:c.511G>T MANE Select	NP_000387.1:p.Val171Leu