Canonical Allele Identifier: CA379093278

Gene: CTSD

Linked Data

• gnomAD v4: 11-1753867-G-A
• MyVariant Identifiers: chr11:g.1775097G>A (hg19) ; chr11:g.1753867G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753867G>A , CM000673.2:g.1753867G>A	GRCh38
NC_000011.9:g.1775097G>A , CM000673.1:g.1775097G>A	GRCh37
NC_000011.8:g.1731673G>A	NCBI36
NG_008655.1:g.15126C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1007C>T MANE Select	ENSP00000236671.2:p.Pro336Leu
ENST00000367196.4:c.902C>T	ENSP00000356164.4:p.Pro301Leu
ENST00000427721.3:c.432C>T
ENST00000429746.2:c.902C>T	ENSP00000402586.2:p.Pro301Leu
ENST00000433655.6:c.*173C>T	ENSP00000404902.1:n.*173C>T
ENST00000438213.6:c.1124C>T	ENSP00000415036.2:p.Pro375Leu
ENST00000497544.3:n.715C>T
ENST00000636397.1:c.1007C>T	ENSP00000489910.1:p.Pro336Leu
ENST00000636571.1:c.986C>T	ENSP00000490770.1:p.Pro329Leu
ENST00000636579.1:c.8C>T	ENSP00000490489.1:p.Pro3Leu
ENST00000636615.1:c.1007C>T	ENSP00000490014.1:p.Pro336Leu
ENST00000636843.1:c.1001C>T	ENSP00000490897.1:p.Pro334Leu
ENST00000637158.1:n.605C>T
ENST00000637381.2:n.3435C>T
ENST00000637387.1:c.986C>T	ENSP00000490598.1:p.Pro329Leu
ENST00000637815.2:c.989C>T	ENSP00000490344.1:p.Pro330Leu
ENST00000637915.1:c.1007C>T	ENSP00000490471.1:p.Pro336Leu
ENST00000637937.1:n.315C>T
ENST00000678991.1:c.*868C>T	ENSP00000503019.1:n.*868C>T
ENST00000236671.6:c.1007C>T	ENSP00000236671.2:p.Pro336Leu
ENST00000427721.2:c.407C>T	ENSP00000415840.2:p.Pro136Leu
ENST00000429746.1:c.338C>T	ENSP00000402586.1:p.Pro113Leu
ENST00000433655.5:c.*173C>T	ENSP00000404902.1:n.*173C>T
ENST00000497544.1:n.715C>T
NM_001909.4:c.1007C>T	NP_001900.1:p.Pro336Leu
NM_001909.5:c.1007C>T MANE Select	NP_001900.1:p.Pro336Leu