Canonical Allele Identifier: CA420701490

Gene: CTSK

Linked Data

• ClinVar Variation Id: 1616757
• ClinVar RCV Id: RCV002075004
• dbSNP Id: rs1654100809
• gnomAD v4: 1-150806767-G-A
• MyVariant Identifiers: chr1:g.150779243G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150806767G>A , CM000663.2:g.150806767G>A	GRCh38
NC_000001.10:g.150779243G>A , CM000663.1:g.150779243G>A	GRCh37
NC_000001.9:g.149045867G>A	NCBI36
NG_011848.1:g.6570C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000271651.8:c.39C>T MANE Select	ENSP00000271651.3:p.Ser13=
ENST00000443913.2:c.216C>T	ENSP00000405083.2:p.Ser72=
ENST00000480670.2:n.2647C>T
ENST00000676680.1:c.39C>T	ENSP00000503270.1:p.Ser13=
ENST00000676716.1:c.39C>T	ENSP00000504737.1:p.Ser13=
ENST00000676751.1:c.39C>T	ENSP00000502964.1:p.Ser13=
ENST00000676824.1:c.39C>T	ENSP00000504176.1:p.Ser13=
ENST00000676966.1:c.39C>T	ENSP00000503723.1:p.Ser13=
ENST00000676970.1:c.39C>T	ENSP00000503832.1:p.Ser13=
ENST00000677330.1:n.1404C>T
ENST00000677887.1:c.81C>T	ENSP00000503876.1:p.Ser27=
ENST00000678275.1:c.39C>T	ENSP00000504796.1:p.Ser13=
ENST00000678337.1:c.75C>T	ENSP00000504759.1:p.Ser25=
ENST00000678725.1:n.1016C>T
ENST00000679090.1:n.163C>T
ENST00000679148.1:n.919C>T
ENST00000679171.1:n.1939C>T
ENST00000679260.1:c.39C>T	ENSP00000504534.1:p.Ser13=
ENST00000271651.7:c.39C>T	ENSP00000271651.3:p.Ser13=
ENST00000443913.1:c.216C>T	ENSP00000405083.1:p.Ser72=
ENST00000480670.1:n.2C>T
NM_000396.3:c.39C>T	NP_000387.1:p.Ser13=
NM_000396.4:c.39C>T MANE Select	NP_000387.1:p.Ser13=