Canonical Allele Identifier: CA379093396

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775125T>G (hg19) ; chr11:g.1753895T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753895T>G , CM000673.2:g.1753895T>G	GRCh38
NC_000011.9:g.1775125T>G , CM000673.1:g.1775125T>G	GRCh37
NC_000011.8:g.1731701T>G	NCBI36
NG_008655.1:g.15098A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.979A>C MANE Select	ENSP00000236671.2:p.Ile327Leu
ENST00000367196.4:c.874A>C	ENSP00000356164.4:p.Ile292Leu
ENST00000427721.3:c.404A>C
ENST00000429746.2:c.874A>C	ENSP00000402586.2:p.Ile292Leu
ENST00000433655.6:c.*145A>C	ENSP00000404902.1:n.*145A>C
ENST00000438213.6:c.1096A>C	ENSP00000415036.2:p.Ile366Leu
ENST00000497544.3:n.687A>C
ENST00000636397.1:c.979A>C	ENSP00000489910.1:p.Ile327Leu
ENST00000636571.1:c.958A>C	ENSP00000490770.1:p.Ile320Leu
ENST00000636615.1:c.979A>C	ENSP00000490014.1:p.Ile327Leu
ENST00000636843.1:c.973A>C	ENSP00000490897.1:p.Ile325Leu
ENST00000637158.1:n.577A>C
ENST00000637381.2:n.3407A>C
ENST00000637387.1:c.973-15A>C	ENSP00000490598.1:n.973-15A>C
ENST00000637815.2:c.961A>C	ENSP00000490344.1:p.Ile321Leu
ENST00000637915.1:c.979A>C	ENSP00000490471.1:p.Ile327Leu
ENST00000637937.1:n.287A>C
ENST00000678991.1:c.*840A>C	ENSP00000503019.1:n.*840A>C
ENST00000236671.6:c.979A>C	ENSP00000236671.2:p.Ile327Leu
ENST00000427721.2:c.379A>C	ENSP00000415840.2:p.Ile127Leu
ENST00000429746.1:c.310A>C	ENSP00000402586.1:p.Ile104Leu
ENST00000433655.5:c.*145A>C	ENSP00000404902.1:n.*145A>C
ENST00000497544.1:n.687A>C
NM_001909.4:c.979A>C	NP_001900.1:p.Ile327Leu
NM_001909.5:c.979A>C MANE Select	NP_001900.1:p.Ile327Leu