Canonical Allele Identifier: CA379093563

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775237A>G (hg19) ; chr11:g.1754007A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754007A>G , CM000673.2:g.1754007A>G	GRCh38
NC_000011.9:g.1775237A>G , CM000673.1:g.1775237A>G	GRCh37
NC_000011.8:g.1731813A>G	NCBI36
NG_008655.1:g.14986T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.959T>C MANE Select	ENSP00000236671.2:p.Leu320Pro
ENST00000367196.4:c.854T>C	ENSP00000356164.4:p.Leu285Pro
ENST00000427721.3:c.384T>C
ENST00000429746.2:c.854T>C	ENSP00000402586.2:p.Leu285Pro
ENST00000433655.6:c.*125T>C	ENSP00000404902.1:n.*125T>C
ENST00000438213.6:c.1076T>C	ENSP00000415036.2:p.Leu359Pro
ENST00000497544.3:n.575T>C
ENST00000636397.1:c.959T>C	ENSP00000489910.1:p.Leu320Pro
ENST00000636571.1:c.938T>C	ENSP00000490770.1:p.Leu313Pro
ENST00000636615.1:c.959T>C	ENSP00000490014.1:p.Leu320Pro
ENST00000636843.1:c.953T>C	ENSP00000490897.1:p.Leu318Pro
ENST00000637158.1:n.557T>C
ENST00000637381.2:n.3387T>C
ENST00000637387.1:c.959T>C	ENSP00000490598.1:p.Leu320Pro
ENST00000637815.2:c.941T>C	ENSP00000490344.1:p.Leu314Pro
ENST00000637915.1:c.959T>C	ENSP00000490471.1:p.Leu320Pro
ENST00000637937.1:n.267T>C
ENST00000678991.1:c.*820T>C	ENSP00000503019.1:n.*820T>C
ENST00000236671.6:c.959T>C	ENSP00000236671.2:p.Leu320Pro
ENST00000427721.2:c.359T>C	ENSP00000415840.2:p.Leu120Pro
ENST00000429746.1:c.290T>C	ENSP00000402586.1:p.Leu97Pro
ENST00000433655.5:c.*125T>C	ENSP00000404902.1:n.*125T>C
ENST00000497544.1:n.575T>C
NM_001909.4:c.959T>C	NP_001900.1:p.Leu320Pro
NM_001909.5:c.959T>C MANE Select	NP_001900.1:p.Leu320Pro