Canonical Allele Identifier: CA6219707
Community Standard Title: NM_001814.6(CTSC):c.1392G>A (p.Ter464=)
Gene: CTSC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.88294006C>T , CM000673.2:g.88294006C>T GRCh38
NC_000011.9:g.88027174C>T , CM000673.1:g.88027174C>T GRCh37
NC_000011.8:g.87666822C>T NCBI36
NG_007952.1:g.48768G>A , LRG_50:g.48768G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001814.6:c.1392G>A MANE Select NP_001805.4:p.Ter464=
ENST00000227266.10:c.1392G>A MANE Select ENSP00000227266.4:p.Ter464=
NM_001814.4:c.1392G>A , LRG_50t1:c.1392G>A NP_001805.3:p.Ter464=
NM_001814.5:c.1392G>A NP_001805.3:p.Ter464=
ENST00000227266.9:c.1392G>A ENSP00000227266.4:p.Ter464=
ENST00000533897.1:n.4126G>A
ENST00000533897.2:n.5705G>A
ENST00000676612.1:c.*1199G>A ENSP00000504440.1:n.*1199G>A
ENST00000677208.1:c.*898G>A ENSP00000504347.1:n.*898G>A
ENST00000677661.1:c.*1069G>A ENSP00000503323.1:n.*1069G>A
ENST00000677802.1:c.*1069G>A ENSP00000504115.1:n.*1069G>A
ENST00000678395.1:c.*898G>A ENSP00000503123.1:n.*898G>A
ENST00000678464.1:c.1359G>A ENSP00000503046.1:p.Ter453=
ENST00000678506.1:c.1353G>A ENSP00000503580.1:p.Ter451=
ENST00000678520.1:c.*1043G>A ENSP00000503361.1:n.*1043G>A
ENST00000678554.1:c.889+2127G>A ENSP00000504541.1:n.889+2127G>A
ENST00000678915.1:c.1260G>A ENSP00000504805.1:p.Ter420=
ENST00000679224.1:c.1029G>A ENSP00000504475.1:p.Ter343=