Canonical Allele Identifier: CA379092598

Gene: CTSD

Linked Data

• gnomAD v4: 11-1753612-G-A
• MyVariant Identifiers: chr11:g.1774842G>A (hg19) ; chr11:g.1753612G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753612G>A , CM000673.2:g.1753612G>A	GRCh38
NC_000011.9:g.1774842G>A , CM000673.1:g.1774842G>A	GRCh37
NC_000011.8:g.1731418G>A	NCBI36
NG_008655.1:g.15381C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1130C>T MANE Select	ENSP00000236671.2:p.Pro377Leu
ENST00000367196.4:c.1025C>T	ENSP00000356164.4:p.Pro342Leu
ENST00000427721.3:c.555C>T
ENST00000429746.2:c.1025C>T	ENSP00000402586.2:p.Pro342Leu
ENST00000433655.6:c.*296C>T	ENSP00000404902.1:n.*296C>T
ENST00000438213.6:c.1247C>T	ENSP00000415036.2:p.Pro416Leu
ENST00000636397.1:c.1071+191C>T	ENSP00000489910.1:n.1071+191C>T
ENST00000636571.1:c.1109C>T	ENSP00000490770.1:p.Pro370Leu
ENST00000636579.1:c.72+191C>T	ENSP00000490489.1:n.72+191C>T
ENST00000636615.1:c.1071+191C>T	ENSP00000490014.1:n.1071+191C>T
ENST00000636843.1:c.1124C>T	ENSP00000490897.1:p.Pro375Leu
ENST00000637158.1:n.728C>T
ENST00000637381.2:n.3558C>T
ENST00000637387.1:c.1109C>T	ENSP00000490598.1:p.Pro370Leu
ENST00000637815.2:c.1112C>T	ENSP00000490344.1:p.Pro371Leu
ENST00000637915.1:c.1121C>T	ENSP00000490471.1:p.Pro374Leu
ENST00000637937.1:n.438C>T
ENST00000678991.1:c.*991C>T	ENSP00000503019.1:n.*991C>T
ENST00000236671.6:c.1130C>T	ENSP00000236671.2:p.Pro377Leu
ENST00000427721.2:c.471+191C>T	ENSP00000415840.2:n.471+191C>T
ENST00000429746.1:c.461C>T	ENSP00000402586.1:p.Pro154Leu
ENST00000433655.5:c.*296C>T	ENSP00000404902.1:n.*296C>T
NM_001909.4:c.1130C>T	NP_001900.1:p.Pro377Leu
NM_001909.5:c.1130C>T MANE Select	NP_001900.1:p.Pro377Leu