Canonical Allele Identifier: CA225416982

Gene: CTSC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294141C>A , CM000673.2:g.88294141C>A	GRCh38
NC_000011.9:g.88027309C>A , CM000673.1:g.88027309C>A	GRCh37
NC_000011.8:g.87666957C>A	NCBI36
NG_007952.1:g.48633G>T , LRG_50:g.48633G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001814.6:c.1257G>T MANE Select	NP_001805.4:p.Gly419=
ENST00000227266.10:c.1257G>T MANE Select	ENSP00000227266.4:p.Gly419=
NM_001814.4:c.1257G>T , LRG_50t1:c.1257G>T	NP_001805.3:p.Gly419=
NM_001814.5:c.1257G>T	NP_001805.3:p.Gly419=
ENST00000227266.9:c.1257G>T	ENSP00000227266.4:p.Gly419=
ENST00000533897.1:n.3991G>T
ENST00000533897.2:n.5570G>T
ENST00000676612.1:c.*1064G>T	ENSP00000504440.1:n.*1064G>T
ENST00000677208.1:c.*763G>T	ENSP00000504347.1:n.*763G>T
ENST00000677661.1:c.*934G>T	ENSP00000503323.1:n.*934G>T
ENST00000677802.1:c.*934G>T	ENSP00000504115.1:n.*934G>T
ENST00000678395.1:c.*763G>T	ENSP00000503123.1:n.*763G>T
ENST00000678464.1:c.1224G>T	ENSP00000503046.1:p.Gly408=
ENST00000678506.1:c.1218G>T	ENSP00000503580.1:p.Gly406=
ENST00000678520.1:c.*908G>T	ENSP00000503361.1:n.*908G>T
ENST00000678554.1:c.889+1992G>T	ENSP00000504541.1:n.889+1992G>T
ENST00000678915.1:c.1125G>T	ENSP00000504805.1:p.Gly375=
ENST00000679224.1:c.894G>T	ENSP00000504475.1:p.Gly298=