Canonical Allele Identifier: CA379095969

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1778623A>G (hg19) ; chr11:g.1757393A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1757393A>G , CM000673.2:g.1757393A>G	GRCh38
NC_000011.9:g.1778623A>G , CM000673.1:g.1778623A>G	GRCh37
NC_000011.8:g.1735199A>G	NCBI36
NG_008655.1:g.11600T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.635T>C MANE Select	ENSP00000236671.2:p.Leu212Pro
ENST00000367196.4:c.530T>C	ENSP00000356164.4:p.Leu177Pro
ENST00000427721.3:c.60T>C
ENST00000429746.2:c.530T>C	ENSP00000402586.2:p.Leu177Pro
ENST00000433655.6:c.635T>C	ENSP00000404902.1:p.Leu212Pro
ENST00000438213.6:c.635T>C	ENSP00000415036.2:p.Leu212Pro
ENST00000636397.1:c.635T>C	ENSP00000489910.1:p.Leu212Pro
ENST00000636571.1:c.614T>C	ENSP00000490770.1:p.Leu205Pro
ENST00000636615.1:c.635T>C	ENSP00000490014.1:p.Leu212Pro
ENST00000636843.1:c.629T>C	ENSP00000490897.1:p.Leu210Pro
ENST00000637158.1:n.233T>C
ENST00000637381.2:n.3063T>C
ENST00000637387.1:c.635T>C	ENSP00000490598.1:p.Leu212Pro
ENST00000637815.2:c.635T>C	ENSP00000490344.1:p.Leu212Pro
ENST00000637915.1:c.635T>C	ENSP00000490471.1:p.Leu212Pro
ENST00000677300.1:n.1030T>C
ENST00000678991.1:c.*496T>C	ENSP00000503019.1:n.*496T>C
ENST00000236671.6:c.635T>C	ENSP00000236671.2:p.Leu212Pro
ENST00000367196.3:c.530T>C	ENSP00000356164.3:p.Leu177Pro
ENST00000427721.2:c.35T>C	ENSP00000415840.2:p.Leu12Pro
ENST00000433655.5:c.635T>C	ENSP00000404902.1:p.Leu212Pro
ENST00000438213.5:c.590T>C	ENSP00000415036.1:p.Leu197Pro
NM_001909.4:c.635T>C	NP_001900.1:p.Leu212Pro
NM_001909.5:c.635T>C MANE Select	NP_001900.1:p.Leu212Pro