Canonical Allele Identifier: CA379092714

Gene: CTSD

Linked Data

• gnomAD v4: 11-1753642-A-G
• MyVariant Identifiers: chr11:g.1774872A>G (hg19) ; chr11:g.1753642A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753642A>G , CM000673.2:g.1753642A>G	GRCh38
NC_000011.9:g.1774872A>G , CM000673.1:g.1774872A>G	GRCh37
NC_000011.8:g.1731448A>G	NCBI36
NG_008655.1:g.15351T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1100T>C MANE Select	ENSP00000236671.2:p.Leu367Pro
ENST00000367196.4:c.995T>C	ENSP00000356164.4:p.Leu332Pro
ENST00000427721.3:c.525T>C
ENST00000429746.2:c.995T>C	ENSP00000402586.2:p.Leu332Pro
ENST00000433655.6:c.*266T>C	ENSP00000404902.1:n.*266T>C
ENST00000438213.6:c.1217T>C	ENSP00000415036.2:p.Leu406Pro
ENST00000636397.1:c.1071+161T>C	ENSP00000489910.1:n.1071+161T>C
ENST00000636571.1:c.1079T>C	ENSP00000490770.1:p.Leu360Pro
ENST00000636579.1:c.72+161T>C	ENSP00000490489.1:n.72+161T>C
ENST00000636615.1:c.1071+161T>C	ENSP00000490014.1:n.1071+161T>C
ENST00000636843.1:c.1094T>C	ENSP00000490897.1:p.Leu365Pro
ENST00000637158.1:n.698T>C
ENST00000637381.2:n.3528T>C
ENST00000637387.1:c.1079T>C	ENSP00000490598.1:p.Leu360Pro
ENST00000637815.2:c.1082T>C	ENSP00000490344.1:p.Leu361Pro
ENST00000637915.1:c.1091T>C	ENSP00000490471.1:p.Leu364Pro
ENST00000637937.1:n.408T>C
ENST00000678991.1:c.*961T>C	ENSP00000503019.1:n.*961T>C
ENST00000236671.6:c.1100T>C	ENSP00000236671.2:p.Leu367Pro
ENST00000427721.2:c.471+161T>C	ENSP00000415840.2:n.471+161T>C
ENST00000429746.1:c.431T>C	ENSP00000402586.1:p.Leu144Pro
ENST00000433655.5:c.*266T>C	ENSP00000404902.1:n.*266T>C
NM_001909.4:c.1100T>C	NP_001900.1:p.Leu367Pro
NM_001909.5:c.1100T>C MANE Select	NP_001900.1:p.Leu367Pro