Canonical Allele Identifier: CA526261252

Gene: CTSK

Linked Data

• dbSNP Id: rs1192599193
• gnomAD v2: 1-150776458-G-A
• gnomAD v3: 1-150803982-G-A
• gnomAD v4: 1-150803982-G-A
• MyVariant Identifiers: chr1:g.150776458G>A (hg19) ; chr1:g.150803982G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150803982G>A , CM000663.2:g.150803982G>A	GRCh38
NC_000001.10:g.150776458G>A , CM000663.1:g.150776458G>A	GRCh37
NC_000001.9:g.149043082G>A	NCBI36
NG_011848.1:g.9355C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000271651.8:c.618+39C>T MANE Select	ENSP00000271651.3:n.618+39C>T
ENST00000443913.2:c.795+39C>T	ENSP00000405083.2:n.795+39C>T
ENST00000480670.2:n.3687+39C>T
ENST00000676680.1:c.618+39C>T	ENSP00000503270.1:n.618+39C>T
ENST00000676716.1:c.495+39C>T	ENSP00000504737.1:n.495+39C>T
ENST00000676751.1:c.618+39C>T	ENSP00000502964.1:n.618+39C>T
ENST00000676824.1:c.618+39C>T	ENSP00000504176.1:n.618+39C>T
ENST00000676966.1:c.618+39C>T	ENSP00000503723.1:n.618+39C>T
ENST00000676970.1:c.618+39C>T	ENSP00000503832.1:n.618+39C>T
ENST00000677330.1:n.2444+39C>T
ENST00000677611.1:n.470+39C>T
ENST00000677887.1:c.660+39C>T	ENSP00000503876.1:n.660+39C>T
ENST00000678275.1:c.*510+39C>T	ENSP00000504796.1:n.*510+39C>T
ENST00000678337.1:c.654+39C>T	ENSP00000504759.1:n.654+39C>T
ENST00000678725.1:n.1595+39C>T
ENST00000679090.1:n.1203+39C>T
ENST00000679148.1:n.3580+39C>T
ENST00000679171.1:n.2979+39C>T
ENST00000679260.1:c.399+1879C>T	ENSP00000504534.1:n.399+1879C>T
ENST00000271651.7:c.618+39C>T	ENSP00000271651.3:n.618+39C>T
NM_000396.3:c.618+39C>T	NP_000387.1:n.618+39C>T
NM_000396.4:c.618+39C>T MANE Select	NP_000387.1:n.618+39C>T