Canonical Allele Identifier: CA382021909

Gene: CTSC

Linked Data

• MyVariant Identifiers: chr11:g.88027482G>A (hg19) ; chr11:g.88294314G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294314G>A , CM000673.2:g.88294314G>A	GRCh38
NC_000011.9:g.88027482G>A , CM000673.1:g.88027482G>A	GRCh37
NC_000011.8:g.87667130G>A	NCBI36
NG_007952.1:g.48460C>T , LRG_50:g.48460C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.1084C>T MANE Select	ENSP00000227266.4:p.Leu362Phe
ENST00000533897.2:n.5397C>T
ENST00000676612.1:c.*891C>T	ENSP00000504440.1:n.*891C>T
ENST00000677208.1:c.*590C>T	ENSP00000504347.1:n.*590C>T
ENST00000677661.1:c.*761C>T	ENSP00000503323.1:n.*761C>T
ENST00000677802.1:c.*761C>T	ENSP00000504115.1:n.*761C>T
ENST00000678395.1:c.*590C>T	ENSP00000503123.1:n.*590C>T
ENST00000678464.1:c.1051C>T	ENSP00000503046.1:p.Leu351Phe
ENST00000678506.1:c.1045C>T	ENSP00000503580.1:p.Leu349Phe
ENST00000678520.1:c.*735C>T	ENSP00000503361.1:n.*735C>T
ENST00000678554.1:c.889+1819C>T	ENSP00000504541.1:n.889+1819C>T
ENST00000678915.1:c.952C>T	ENSP00000504805.1:p.Leu318Phe
ENST00000679224.1:c.721C>T	ENSP00000504475.1:p.Leu241Phe
ENST00000227266.9:c.1084C>T	ENSP00000227266.4:p.Leu362Phe
ENST00000533897.1:n.3818C>T
NM_001814.4:c.1084C>T , LRG_50t1:c.1084C>T	NP_001805.3:p.Leu362Phe
NM_001814.5:c.1084C>T	NP_001805.3:p.Leu362Phe
NM_001814.6:c.1084C>T MANE Select	NP_001805.4:p.Leu362Phe