Canonical Allele Identifier: CA382022190

Gene: CTSC

Linked Data

• MyVariant Identifiers: chr11:g.88027607G>C (hg19) ; chr11:g.88294439G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294439G>C , CM000673.2:g.88294439G>C	GRCh38
NC_000011.9:g.88027607G>C , CM000673.1:g.88027607G>C	GRCh37
NC_000011.8:g.87667255G>C	NCBI36
NG_007952.1:g.48335C>G , LRG_50:g.48335C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.959C>G MANE Select	ENSP00000227266.4:p.Ala320Gly
ENST00000533897.2:n.5272C>G
ENST00000676612.1:c.*766C>G	ENSP00000504440.1:n.*766C>G
ENST00000677208.1:c.*465C>G	ENSP00000504347.1:n.*465C>G
ENST00000677661.1:c.*636C>G	ENSP00000503323.1:n.*636C>G
ENST00000677802.1:c.*636C>G	ENSP00000504115.1:n.*636C>G
ENST00000678395.1:c.*465C>G	ENSP00000503123.1:n.*465C>G
ENST00000678464.1:c.926C>G	ENSP00000503046.1:p.Ala309Gly
ENST00000678506.1:c.920C>G	ENSP00000503580.1:p.Ala307Gly
ENST00000678520.1:c.*610C>G	ENSP00000503361.1:n.*610C>G
ENST00000678554.1:c.889+1694C>G	ENSP00000504541.1:n.889+1694C>G
ENST00000678915.1:c.827C>G	ENSP00000504805.1:p.Ala276Gly
ENST00000679224.1:c.596C>G	ENSP00000504475.1:p.Ala199Gly
ENST00000227266.9:c.959C>G	ENSP00000227266.4:p.Ala320Gly
ENST00000533897.1:n.3693C>G
NM_001814.4:c.959C>G , LRG_50t1:c.959C>G	NP_001805.3:p.Ala320Gly
NM_001814.5:c.959C>G	NP_001805.3:p.Ala320Gly
NM_001814.6:c.959C>G MANE Select	NP_001805.4:p.Ala320Gly