Canonical Allele Identifier: CA379092897

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775061T>A (hg19) ; chr11:g.1753831T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753831T>A , CM000673.2:g.1753831T>A	GRCh38
NC_000011.9:g.1775061T>A , CM000673.1:g.1775061T>A	GRCh37
NC_000011.8:g.1731637T>A	NCBI36
NG_008655.1:g.15162A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1043A>T MANE Select	ENSP00000236671.2:p.Lys348Met
ENST00000367196.4:c.938A>T	ENSP00000356164.4:p.Lys313Met
ENST00000427721.3:c.468A>T
ENST00000429746.2:c.938A>T	ENSP00000402586.2:p.Lys313Met
ENST00000433655.6:c.*209A>T	ENSP00000404902.1:n.*209A>T
ENST00000438213.6:c.1160A>T	ENSP00000415036.2:p.Lys387Met
ENST00000497544.3:n.751A>T
ENST00000636397.1:c.1043A>T	ENSP00000489910.1:p.Lys348Met
ENST00000636571.1:c.1022A>T	ENSP00000490770.1:p.Lys341Met
ENST00000636579.1:c.44A>T	ENSP00000490489.1:p.Lys15Met
ENST00000636615.1:c.1043A>T	ENSP00000490014.1:p.Lys348Met
ENST00000636843.1:c.1037A>T	ENSP00000490897.1:p.Lys346Met
ENST00000637158.1:n.641A>T
ENST00000637381.2:n.3471A>T
ENST00000637387.1:c.1022A>T	ENSP00000490598.1:p.Lys341Met
ENST00000637815.2:c.1025A>T	ENSP00000490344.1:p.Lys342Met
ENST00000637915.1:c.1043A>T	ENSP00000490471.1:p.Lys348Met
ENST00000637937.1:n.351A>T
ENST00000678991.1:c.*904A>T	ENSP00000503019.1:n.*904A>T
ENST00000236671.6:c.1043A>T	ENSP00000236671.2:p.Lys348Met
ENST00000427721.2:c.443A>T	ENSP00000415840.2:p.Lys148Met
ENST00000429746.1:c.374A>T	ENSP00000402586.1:p.Lys125Met
ENST00000433655.5:c.*209A>T	ENSP00000404902.1:n.*209A>T
ENST00000497544.1:n.751A>T
NM_001909.4:c.1043A>T	NP_001900.1:p.Lys348Met
NM_001909.5:c.1043A>T MANE Select	NP_001900.1:p.Lys348Met