Canonical Allele Identifier: CA476145376

Gene: CTSC

Linked Data

• gnomAD v4: 11-88294321-C-A
• MyVariant Identifiers: chr11:g.88027489C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294321C>A , CM000673.2:g.88294321C>A	GRCh38
NC_000011.9:g.88027489C>A , CM000673.1:g.88027489C>A	GRCh37
NC_000011.8:g.87667137C>A	NCBI36
NG_007952.1:g.48453G>T , LRG_50:g.48453G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.1077G>T MANE Select	ENSP00000227266.4:p.Leu359=
ENST00000533897.2:n.5390G>T
ENST00000676612.1:c.*884G>T	ENSP00000504440.1:n.*884G>T
ENST00000677208.1:c.*583G>T	ENSP00000504347.1:n.*583G>T
ENST00000677661.1:c.*754G>T	ENSP00000503323.1:n.*754G>T
ENST00000677802.1:c.*754G>T	ENSP00000504115.1:n.*754G>T
ENST00000678395.1:c.*583G>T	ENSP00000503123.1:n.*583G>T
ENST00000678464.1:c.1044G>T	ENSP00000503046.1:p.Leu348=
ENST00000678506.1:c.1038G>T	ENSP00000503580.1:p.Leu346=
ENST00000678520.1:c.*728G>T	ENSP00000503361.1:n.*728G>T
ENST00000678554.1:c.889+1812G>T	ENSP00000504541.1:n.889+1812G>T
ENST00000678915.1:c.945G>T	ENSP00000504805.1:p.Leu315=
ENST00000679224.1:c.714G>T	ENSP00000504475.1:p.Leu238=
ENST00000227266.9:c.1077G>T	ENSP00000227266.4:p.Leu359=
ENST00000533897.1:n.3811G>T
NM_001814.4:c.1077G>T , LRG_50t1:c.1077G>T	NP_001805.3:p.Leu359=
NM_001814.5:c.1077G>T	NP_001805.3:p.Leu359=
NM_001814.6:c.1077G>T MANE Select	NP_001805.4:p.Leu359=