Canonical Allele Identifier: CA6219781

Gene: CTSC

Linked Data

• dbSNP Id: rs754766779
• ExAC: 11:88027502 C / G
• gnomAD v2: 11-88027502-C-G
• gnomAD v4: 11-88294334-C-G
• MyVariant Identifiers: chr11:g.88027502C>G (hg19) ; chr11:g.88294334C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294334C>G , CM000673.2:g.88294334C>G	GRCh38
NC_000011.9:g.88027502C>G , CM000673.1:g.88027502C>G	GRCh37
NC_000011.8:g.87667150C>G	NCBI36
NG_007952.1:g.48440G>C , LRG_50:g.48440G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.1064G>C MANE Select	ENSP00000227266.4:p.Cys355Ser
ENST00000533897.2:n.5377G>C
ENST00000676612.1:c.*871G>C	ENSP00000504440.1:n.*871G>C
ENST00000677208.1:c.*570G>C	ENSP00000504347.1:n.*570G>C
ENST00000677661.1:c.*741G>C	ENSP00000503323.1:n.*741G>C
ENST00000677802.1:c.*741G>C	ENSP00000504115.1:n.*741G>C
ENST00000678395.1:c.*570G>C	ENSP00000503123.1:n.*570G>C
ENST00000678464.1:c.1031G>C	ENSP00000503046.1:p.Cys344Ser
ENST00000678506.1:c.1025G>C	ENSP00000503580.1:p.Cys342Ser
ENST00000678520.1:c.*715G>C	ENSP00000503361.1:n.*715G>C
ENST00000678554.1:c.889+1799G>C	ENSP00000504541.1:n.889+1799G>C
ENST00000678915.1:c.932G>C	ENSP00000504805.1:p.Cys311Ser
ENST00000679224.1:c.701G>C	ENSP00000504475.1:p.Cys234Ser
ENST00000227266.9:c.1064G>C	ENSP00000227266.4:p.Cys355Ser
ENST00000533897.1:n.3798G>C
NM_001814.4:c.1064G>C , LRG_50t1:c.1064G>C	NP_001805.3:p.Cys355Ser
NM_001814.5:c.1064G>C	NP_001805.3:p.Cys355Ser
NM_001814.6:c.1064G>C MANE Select	NP_001805.4:p.Cys355Ser