Canonical Allele Identifier: CA382021991

Gene: CTSC

Linked Data

• dbSNP Id: rs1565249716
• gnomAD v2: 11-88027518-C-G
• gnomAD v4: 11-88294350-C-G
• MyVariant Identifiers: chr11:g.88027518C>G (hg19) ; chr11:g.88027518_88027519delinsGT (hg19) ; chr11:g.88294350C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294350C>G , CM000673.2:g.88294350C>G	GRCh38
NC_000011.9:g.88027518C>G , CM000673.1:g.88027518C>G	GRCh37
NC_000011.8:g.87667166C>G	NCBI36
NG_007952.1:g.48424G>C , LRG_50:g.48424G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000227266.10:c.1048G>C MANE Select	ENSP00000227266.4:p.Gly350Arg
ENST00000533897.2:n.5361G>C
ENST00000676612.1:c.*855G>C	ENSP00000504440.1:n.*855G>C
ENST00000677208.1:c.*554G>C	ENSP00000504347.1:n.*554G>C
ENST00000677661.1:c.*725G>C	ENSP00000503323.1:n.*725G>C
ENST00000677802.1:c.*725G>C	ENSP00000504115.1:n.*725G>C
ENST00000678395.1:c.*554G>C	ENSP00000503123.1:n.*554G>C
ENST00000678464.1:c.1015G>C	ENSP00000503046.1:p.Gly339Arg
ENST00000678506.1:c.1009G>C	ENSP00000503580.1:p.Gly337Arg
ENST00000678520.1:c.*699G>C	ENSP00000503361.1:n.*699G>C
ENST00000678554.1:c.889+1783G>C	ENSP00000504541.1:n.889+1783G>C
ENST00000678915.1:c.916G>C	ENSP00000504805.1:p.Gly306Arg
ENST00000679224.1:c.685G>C	ENSP00000504475.1:p.Gly229Arg
ENST00000227266.9:c.1048G>C	ENSP00000227266.4:p.Gly350Arg
ENST00000533897.1:n.3782G>C
NM_001814.4:c.1048G>C , LRG_50t1:c.1048G>C	NP_001805.3:p.Gly350Arg
NM_001814.5:c.1048G>C	NP_001805.3:p.Gly350Arg
NM_001814.6:c.1048G>C MANE Select	NP_001805.4:p.Gly350Arg