Canonical Allele Identifier: CA476145195

Gene: CTSC

Linked Data

• dbSNP Id: rs1426733249
• MyVariant Identifiers: chr11:g.88027552A>G (hg19) ; chr11:g.88294384A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294384A>G , CM000673.2:g.88294384A>G	GRCh38
NC_000011.9:g.88027552A>G , CM000673.1:g.88027552A>G	GRCh37
NC_000011.8:g.87667200A>G	NCBI36
NG_007952.1:g.48390T>C , LRG_50:g.48390T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.1014T>C MANE Select	ENSP00000227266.4:p.Phe338=
ENST00000533897.2:n.5327T>C
ENST00000676612.1:c.*821T>C	ENSP00000504440.1:n.*821T>C
ENST00000677208.1:c.*520T>C	ENSP00000504347.1:n.*520T>C
ENST00000677661.1:c.*691T>C	ENSP00000503323.1:n.*691T>C
ENST00000677802.1:c.*691T>C	ENSP00000504115.1:n.*691T>C
ENST00000678395.1:c.*520T>C	ENSP00000503123.1:n.*520T>C
ENST00000678464.1:c.981T>C	ENSP00000503046.1:p.Phe327=
ENST00000678506.1:c.975T>C	ENSP00000503580.1:p.Phe325=
ENST00000678520.1:c.*665T>C	ENSP00000503361.1:n.*665T>C
ENST00000678554.1:c.889+1749T>C	ENSP00000504541.1:n.889+1749T>C
ENST00000678915.1:c.882T>C	ENSP00000504805.1:p.Phe294=
ENST00000679224.1:c.651T>C	ENSP00000504475.1:p.Phe217=
ENST00000227266.9:c.1014T>C	ENSP00000227266.4:p.Phe338=
ENST00000533897.1:n.3748T>C
NM_001814.4:c.1014T>C , LRG_50t1:c.1014T>C	NP_001805.3:p.Phe338=
NM_001814.5:c.1014T>C	NP_001805.3:p.Phe338=
NM_001814.6:c.1014T>C MANE Select	NP_001805.4:p.Phe338=