Canonical Allele Identifier: CA382022224

Gene: CTSC

Linked Data

• MyVariant Identifiers: chr11:g.88027623C>A (hg19) ; chr11:g.88294455C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294455C>A , CM000673.2:g.88294455C>A	GRCh38
NC_000011.9:g.88027623C>A , CM000673.1:g.88027623C>A	GRCh37
NC_000011.8:g.87667271C>A	NCBI36
NG_007952.1:g.48319G>T , LRG_50:g.48319G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000227266.10:c.943G>T MANE Select	ENSP00000227266.4:p.Gly315Trp
ENST00000533897.2:n.5256G>T
ENST00000676612.1:c.*750G>T	ENSP00000504440.1:n.*750G>T
ENST00000677208.1:c.*449G>T	ENSP00000504347.1:n.*449G>T
ENST00000677661.1:c.*620G>T	ENSP00000503323.1:n.*620G>T
ENST00000677802.1:c.*620G>T	ENSP00000504115.1:n.*620G>T
ENST00000678395.1:c.*449G>T	ENSP00000503123.1:n.*449G>T
ENST00000678464.1:c.910G>T	ENSP00000503046.1:p.Gly304Trp
ENST00000678506.1:c.904G>T	ENSP00000503580.1:p.Gly302Trp
ENST00000678520.1:c.*594G>T	ENSP00000503361.1:n.*594G>T
ENST00000678554.1:c.889+1678G>T	ENSP00000504541.1:n.889+1678G>T
ENST00000678915.1:c.811G>T	ENSP00000504805.1:p.Gly271Trp
ENST00000679224.1:c.580G>T	ENSP00000504475.1:p.Gly194Trp
ENST00000227266.9:c.943G>T	ENSP00000227266.4:p.Gly315Trp
ENST00000533897.1:n.3677G>T
NM_001814.4:c.943G>T , LRG_50t1:c.943G>T	NP_001805.3:p.Gly315Trp
NM_001814.5:c.943G>T	NP_001805.3:p.Gly315Trp
NM_001814.6:c.943G>T MANE Select	NP_001805.4:p.Gly315Trp