Canonical Allele Identifier: CA472140715

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775236C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754006C>G , CM000673.2:g.1754006C>G	GRCh38
NC_000011.9:g.1775236C>G , CM000673.1:g.1775236C>G	GRCh37
NC_000011.8:g.1731812C>G	NCBI36
NG_008655.1:g.14987G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.960G>C MANE Select	ENSP00000236671.2:p.Leu320=
ENST00000367196.4:c.855G>C	ENSP00000356164.4:p.Leu285=
ENST00000427721.3:c.385G>C
ENST00000429746.2:c.855G>C	ENSP00000402586.2:p.Leu285=
ENST00000433655.6:c.*126G>C	ENSP00000404902.1:n.*126G>C
ENST00000438213.6:c.1077G>C	ENSP00000415036.2:p.Leu359=
ENST00000497544.3:n.576G>C
ENST00000636397.1:c.960G>C	ENSP00000489910.1:p.Leu320=
ENST00000636571.1:c.939G>C	ENSP00000490770.1:p.Leu313=
ENST00000636615.1:c.960G>C	ENSP00000490014.1:p.Leu320=
ENST00000636843.1:c.954G>C	ENSP00000490897.1:p.Leu318=
ENST00000637158.1:n.558G>C
ENST00000637381.2:n.3388G>C
ENST00000637387.1:c.960G>C	ENSP00000490598.1:p.Leu320=
ENST00000637815.2:c.942G>C	ENSP00000490344.1:p.Leu314=
ENST00000637915.1:c.960G>C	ENSP00000490471.1:p.Leu320=
ENST00000637937.1:n.268G>C
ENST00000678991.1:c.*821G>C	ENSP00000503019.1:n.*821G>C
ENST00000236671.6:c.960G>C	ENSP00000236671.2:p.Leu320=
ENST00000427721.2:c.360G>C	ENSP00000415840.2:p.Leu120=
ENST00000429746.1:c.291G>C	ENSP00000402586.1:p.Leu97=
ENST00000433655.5:c.*126G>C	ENSP00000404902.1:n.*126G>C
ENST00000497544.1:n.576G>C
NM_001909.4:c.960G>C	NP_001900.1:p.Leu320=
NM_001909.5:c.960G>C MANE Select	NP_001900.1:p.Leu320=