Canonical Allele Identifier: CA342336804

Gene: CTSK

Linked Data

• dbSNP Id: rs1226682505
• gnomAD v2: 1-150776715-C-T
• gnomAD v4: 1-150804239-C-T
• MyVariant Identifiers: chr1:g.150776715C>T (hg19) ; chr1:g.150804239C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804239C>T , CM000663.2:g.150804239C>T	GRCh38
NC_000001.10:g.150776715C>T , CM000663.1:g.150776715C>T	GRCh37
NC_000001.9:g.149043339C>T	NCBI36
NG_011848.1:g.9098G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.400G>A MANE Select	ENSP00000271651.3:p.Gly134Ser
ENST00000443913.2:c.577G>A	ENSP00000405083.2:p.Gly193Ser
ENST00000480670.2:n.3469G>A
ENST00000676680.1:c.400G>A	ENSP00000503270.1:p.Gly134Ser
ENST00000676716.1:c.277G>A	ENSP00000504737.1:p.Gly93Ser
ENST00000676751.1:c.400G>A	ENSP00000502964.1:p.Gly134Ser
ENST00000676824.1:c.400G>A	ENSP00000504176.1:p.Gly134Ser
ENST00000676966.1:c.400G>A	ENSP00000503723.1:p.Gly134Ser
ENST00000676970.1:c.400G>A	ENSP00000503832.1:p.Gly134Ser
ENST00000677330.1:n.2226G>A
ENST00000677611.1:n.252G>A
ENST00000677887.1:c.442G>A	ENSP00000503876.1:p.Gly148Ser
ENST00000678275.1:c.*292G>A	ENSP00000504796.1:n.*292G>A
ENST00000678337.1:c.436G>A	ENSP00000504759.1:p.Gly146Ser
ENST00000678725.1:n.1377G>A
ENST00000679090.1:n.985G>A
ENST00000679148.1:n.3362G>A
ENST00000679171.1:n.2761G>A
ENST00000679260.1:c.399+1622G>A	ENSP00000504534.1:n.399+1622G>A
ENST00000271651.7:c.400G>A	ENSP00000271651.3:p.Gly134Ser
ENST00000443913.1:c.577G>A	ENSP00000405083.1:p.Gly193Ser
ENST00000480670.1:n.240G>A
NM_000396.3:c.400G>A	NP_000387.1:p.Gly134Ser
NM_000396.4:c.400G>A MANE Select	NP_000387.1:p.Gly134Ser