Canonical Allele Identifier: CA382021979

Gene: CTSC

Linked Data

• MyVariant Identifiers: chr11:g.88027513G>C (hg19) ; chr11:g.88294345G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294345G>C , CM000673.2:g.88294345G>C	GRCh38
NC_000011.9:g.88027513G>C , CM000673.1:g.88027513G>C	GRCh37
NC_000011.8:g.87667161G>C	NCBI36
NG_007952.1:g.48429C>G , LRG_50:g.48429C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000227266.10:c.1053C>G MANE Select	ENSP00000227266.4:p.Phe351Leu
ENST00000533897.2:n.5366C>G
ENST00000676612.1:c.*860C>G	ENSP00000504440.1:n.*860C>G
ENST00000677208.1:c.*559C>G	ENSP00000504347.1:n.*559C>G
ENST00000677661.1:c.*730C>G	ENSP00000503323.1:n.*730C>G
ENST00000677802.1:c.*730C>G	ENSP00000504115.1:n.*730C>G
ENST00000678395.1:c.*559C>G	ENSP00000503123.1:n.*559C>G
ENST00000678464.1:c.1020C>G	ENSP00000503046.1:p.Phe340Leu
ENST00000678506.1:c.1014C>G	ENSP00000503580.1:p.Phe338Leu
ENST00000678520.1:c.*704C>G	ENSP00000503361.1:n.*704C>G
ENST00000678554.1:c.889+1788C>G	ENSP00000504541.1:n.889+1788C>G
ENST00000678915.1:c.921C>G	ENSP00000504805.1:p.Phe307Leu
ENST00000679224.1:c.690C>G	ENSP00000504475.1:p.Phe230Leu
ENST00000227266.9:c.1053C>G	ENSP00000227266.4:p.Phe351Leu
ENST00000533897.1:n.3787C>G
NM_001814.4:c.1053C>G , LRG_50t1:c.1053C>G	NP_001805.3:p.Phe351Leu
NM_001814.5:c.1053C>G	NP_001805.3:p.Phe351Leu
NM_001814.6:c.1053C>G MANE Select	NP_001805.4:p.Phe351Leu