Canonical Allele Identifier: CA382022233

Gene: CTSC

Linked Data

• MyVariant Identifiers: chr11:g.88027626A>G (hg19) ; chr11:g.88294458A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294458A>G , CM000673.2:g.88294458A>G	GRCh38
NC_000011.9:g.88027626A>G , CM000673.1:g.88027626A>G	GRCh37
NC_000011.8:g.87667274A>G	NCBI36
NG_007952.1:g.48316T>C , LRG_50:g.48316T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000227266.10:c.940T>C MANE Select	ENSP00000227266.4:p.Phe314Leu
ENST00000533897.2:n.5253T>C
ENST00000676612.1:c.*747T>C	ENSP00000504440.1:n.*747T>C
ENST00000677208.1:c.*446T>C	ENSP00000504347.1:n.*446T>C
ENST00000677661.1:c.*617T>C	ENSP00000503323.1:n.*617T>C
ENST00000677802.1:c.*617T>C	ENSP00000504115.1:n.*617T>C
ENST00000678395.1:c.*446T>C	ENSP00000503123.1:n.*446T>C
ENST00000678464.1:c.907T>C	ENSP00000503046.1:p.Phe303Leu
ENST00000678506.1:c.901T>C	ENSP00000503580.1:p.Phe301Leu
ENST00000678520.1:c.*591T>C	ENSP00000503361.1:n.*591T>C
ENST00000678554.1:c.889+1675T>C	ENSP00000504541.1:n.889+1675T>C
ENST00000678915.1:c.808T>C	ENSP00000504805.1:p.Phe270Leu
ENST00000679224.1:c.577T>C	ENSP00000504475.1:p.Phe193Leu
ENST00000227266.9:c.940T>C	ENSP00000227266.4:p.Phe314Leu
ENST00000533897.1:n.3674T>C
NM_001814.4:c.940T>C , LRG_50t1:c.940T>C	NP_001805.3:p.Phe314Leu
NM_001814.5:c.940T>C	NP_001805.3:p.Phe314Leu
NM_001814.6:c.940T>C MANE Select	NP_001805.4:p.Phe314Leu