Canonical Allele Identifier: CA379093317

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775110C>G (hg19) ; chr11:g.1753880C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753880C>G , CM000673.2:g.1753880C>G	GRCh38
NC_000011.9:g.1775110C>G , CM000673.1:g.1775110C>G	GRCh37
NC_000011.8:g.1731686C>G	NCBI36
NG_008655.1:g.15113G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.994G>C MANE Select	ENSP00000236671.2:p.Val332Leu
ENST00000367196.4:c.889G>C	ENSP00000356164.4:p.Val297Leu
ENST00000427721.3:c.419G>C
ENST00000429746.2:c.889G>C	ENSP00000402586.2:p.Val297Leu
ENST00000433655.6:c.*160G>C	ENSP00000404902.1:n.*160G>C
ENST00000438213.6:c.1111G>C	ENSP00000415036.2:p.Val371Leu
ENST00000497544.3:n.702G>C
ENST00000636397.1:c.994G>C	ENSP00000489910.1:p.Val332Leu
ENST00000636571.1:c.973G>C	ENSP00000490770.1:p.Val325Leu
ENST00000636615.1:c.994G>C	ENSP00000490014.1:p.Val332Leu
ENST00000636843.1:c.988G>C	ENSP00000490897.1:p.Val330Leu
ENST00000637158.1:n.592G>C
ENST00000637381.2:n.3422G>C
ENST00000637387.1:c.973G>C	ENSP00000490598.1:p.Val325Leu
ENST00000637815.2:c.976G>C	ENSP00000490344.1:p.Val326Leu
ENST00000637915.1:c.994G>C	ENSP00000490471.1:p.Val332Leu
ENST00000637937.1:n.302G>C
ENST00000678991.1:c.*855G>C	ENSP00000503019.1:n.*855G>C
ENST00000236671.6:c.994G>C	ENSP00000236671.2:p.Val332Leu
ENST00000427721.2:c.394G>C	ENSP00000415840.2:p.Val132Leu
ENST00000429746.1:c.325G>C	ENSP00000402586.1:p.Val109Leu
ENST00000433655.5:c.*160G>C	ENSP00000404902.1:n.*160G>C
ENST00000497544.1:n.702G>C
NM_001909.4:c.994G>C	NP_001900.1:p.Val332Leu
NM_001909.5:c.994G>C MANE Select	NP_001900.1:p.Val332Leu