Canonical Allele Identifier: CA1080579

Gene: CTSK

Linked Data

• dbSNP Id: rs755011972
• ExAC: 1:150779141 C / A
• gnomAD v2: 1-150779141-C-A
• gnomAD v4: 1-150806665-C-A
• MyVariant Identifiers: chr1:g.150779141C>A (hg19) ; chr1:g.150806665C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150806665C>A , CM000663.2:g.150806665C>A	GRCh38
NC_000001.10:g.150779141C>A , CM000663.1:g.150779141C>A	GRCh37
NC_000001.9:g.149045765C>A	NCBI36
NG_011848.1:g.6672G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000271651.8:c.120+21G>T MANE Select	ENSP00000271651.3:n.120+21G>T
ENST00000443913.2:c.297+21G>T	ENSP00000405083.2:n.297+21G>T
ENST00000480670.2:n.2749G>T
ENST00000676680.1:c.120+21G>T	ENSP00000503270.1:n.120+21G>T
ENST00000676716.1:c.120+21G>T	ENSP00000504737.1:n.120+21G>T
ENST00000676751.1:c.120+21G>T	ENSP00000502964.1:n.120+21G>T
ENST00000676824.1:c.120+21G>T	ENSP00000504176.1:n.120+21G>T
ENST00000676966.1:c.120+21G>T	ENSP00000503723.1:n.120+21G>T
ENST00000676970.1:c.120+21G>T	ENSP00000503832.1:n.120+21G>T
ENST00000677330.1:n.1506G>T
ENST00000677887.1:c.162+21G>T	ENSP00000503876.1:n.162+21G>T
ENST00000678275.1:c.120+21G>T	ENSP00000504796.1:n.120+21G>T
ENST00000678337.1:c.156+21G>T	ENSP00000504759.1:n.156+21G>T
ENST00000678725.1:n.1097+21G>T
ENST00000679090.1:n.265G>T
ENST00000679148.1:n.1021G>T
ENST00000679171.1:n.2041G>T
ENST00000679260.1:c.120+21G>T	ENSP00000504534.1:n.120+21G>T
ENST00000271651.7:c.120+21G>T	ENSP00000271651.3:n.120+21G>T
ENST00000443913.1:c.297+21G>T	ENSP00000405083.1:n.297+21G>T
ENST00000480670.1:n.83+21G>T
NM_000396.3:c.120+21G>T	NP_000387.1:n.120+21G>T
NM_000396.4:c.120+21G>T MANE Select	NP_000387.1:n.120+21G>T