Canonical Allele Identifier: CA382022311

Gene: CTSC

Linked Data

• MyVariant Identifiers: chr11:g.88027662A>T (hg19) ; chr11:g.88294494A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294494A>T , CM000673.2:g.88294494A>T	GRCh38
NC_000011.9:g.88027662A>T , CM000673.1:g.88027662A>T	GRCh37
NC_000011.8:g.87667310A>T	NCBI36
NG_007952.1:g.48280T>A , LRG_50:g.48280T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.904T>A MANE Select	ENSP00000227266.4:p.Phe302Ile
ENST00000533897.2:n.5217T>A
ENST00000676612.1:c.*711T>A	ENSP00000504440.1:n.*711T>A
ENST00000677208.1:c.*410T>A	ENSP00000504347.1:n.*410T>A
ENST00000677661.1:c.*581T>A	ENSP00000503323.1:n.*581T>A
ENST00000677802.1:c.*581T>A	ENSP00000504115.1:n.*581T>A
ENST00000678395.1:c.*410T>A	ENSP00000503123.1:n.*410T>A
ENST00000678464.1:c.890-19T>A	ENSP00000503046.1:n.890-19T>A
ENST00000678506.1:c.865T>A	ENSP00000503580.1:p.Phe289Ile
ENST00000678520.1:c.*555T>A	ENSP00000503361.1:n.*555T>A
ENST00000678554.1:c.889+1639T>A	ENSP00000504541.1:n.889+1639T>A
ENST00000678915.1:c.772T>A	ENSP00000504805.1:p.Phe258Ile
ENST00000679224.1:c.541T>A	ENSP00000504475.1:p.Phe181Ile
ENST00000227266.9:c.904T>A	ENSP00000227266.4:p.Phe302Ile
ENST00000533897.1:n.3638T>A
NM_001814.4:c.904T>A , LRG_50t1:c.904T>A	NP_001805.3:p.Phe302Ile
NM_001814.5:c.904T>A	NP_001805.3:p.Phe302Ile
NM_001814.6:c.904T>A MANE Select	NP_001805.4:p.Phe302Ile