Canonical Allele Identifier: CA382021996

Gene: CTSC

Linked Data

• MyVariant Identifiers: chr11:g.88027521C>G (hg19) ; chr11:g.88294353C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294353C>G , CM000673.2:g.88294353C>G	GRCh38
NC_000011.9:g.88027521C>G , CM000673.1:g.88027521C>G	GRCh37
NC_000011.8:g.87667169C>G	NCBI36
NG_007952.1:g.48421G>C , LRG_50:g.48421G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000227266.10:c.1045G>C MANE Select	ENSP00000227266.4:p.Gly349Arg
ENST00000533897.2:n.5358G>C
ENST00000676612.1:c.*852G>C	ENSP00000504440.1:n.*852G>C
ENST00000677208.1:c.*551G>C	ENSP00000504347.1:n.*551G>C
ENST00000677661.1:c.*722G>C	ENSP00000503323.1:n.*722G>C
ENST00000677802.1:c.*722G>C	ENSP00000504115.1:n.*722G>C
ENST00000678395.1:c.*551G>C	ENSP00000503123.1:n.*551G>C
ENST00000678464.1:c.1012G>C	ENSP00000503046.1:p.Gly338Arg
ENST00000678506.1:c.1006G>C	ENSP00000503580.1:p.Gly336Arg
ENST00000678520.1:c.*696G>C	ENSP00000503361.1:n.*696G>C
ENST00000678554.1:c.889+1780G>C	ENSP00000504541.1:n.889+1780G>C
ENST00000678915.1:c.913G>C	ENSP00000504805.1:p.Gly305Arg
ENST00000679224.1:c.682G>C	ENSP00000504475.1:p.Gly228Arg
ENST00000227266.9:c.1045G>C	ENSP00000227266.4:p.Gly349Arg
ENST00000533897.1:n.3779G>C
NM_001814.4:c.1045G>C , LRG_50t1:c.1045G>C	NP_001805.3:p.Gly349Arg
NM_001814.5:c.1045G>C	NP_001805.3:p.Gly349Arg
NM_001814.6:c.1045G>C MANE Select	NP_001805.4:p.Gly349Arg