Canonical Allele Identifier: CA382024935

Gene: CTSC

Linked Data

• MyVariant Identifiers: chr11:g.88042348G>C (hg19) ; chr11:g.88309180G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88309180G>C , CM000673.2:g.88309180G>C	GRCh38
NC_000011.9:g.88042348G>C , CM000673.1:g.88042348G>C	GRCh37
NC_000011.8:g.87681996G>C	NCBI36
NG_007952.1:g.33594C>G , LRG_50:g.33594C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000227266.10:c.624C>G MANE Select	ENSP00000227266.4:p.His208Gln
ENST00000527018.6:c.624C>G	ENSP00000432556.2:p.His208Gln
ENST00000533897.2:n.672C>G
ENST00000676612.1:c.*431C>G	ENSP00000504440.1:n.*431C>G
ENST00000677208.1:c.*130C>G	ENSP00000504347.1:n.*130C>G
ENST00000677661.1:c.*301C>G	ENSP00000503323.1:n.*301C>G
ENST00000677802.1:c.*301C>G	ENSP00000504115.1:n.*301C>G
ENST00000678065.1:n.184C>G
ENST00000678395.1:c.*130C>G	ENSP00000503123.1:n.*130C>G
ENST00000678464.1:c.624C>G	ENSP00000503046.1:p.His208Gln
ENST00000678506.1:c.585C>G	ENSP00000503580.1:p.His195Gln
ENST00000678520.1:c.*292+3208C>G	ENSP00000503361.1:n.*292+3208C>G
ENST00000678554.1:c.624C>G	ENSP00000504541.1:p.His208Gln
ENST00000678915.1:c.624C>G	ENSP00000504805.1:p.His208Gln
ENST00000679224.1:c.261C>G	ENSP00000504475.1:p.His87Gln
ENST00000227266.9:c.624C>G	ENSP00000227266.4:p.His208Gln
ENST00000527018.5:c.494C>G
NM_001814.4:c.624C>G , LRG_50t1:c.624C>G	NP_001805.3:p.His208Gln
NM_001814.5:c.624C>G	NP_001805.3:p.His208Gln
NM_001814.6:c.624C>G MANE Select	NP_001805.4:p.His208Gln