Canonical Allele Identifier: CA10097905
Gene: CLTCL1 HGNC NCBI
COSMIC:
MyVariant.info:
Revel Score:
gnomAD v4:
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:
dbSNP:

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19196584T>C , CM000684.2:g.19196584T>C GRCh38
NC_000022.10:g.19184095T>C , CM000684.1:g.19184095T>C GRCh37
NC_000022.9:g.17564095T>C NCBI36
NG_033805.1:g.100133A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000427926.6:c.3946A>G MANE Select ENSP00000441158.1:p.Met1316Val
ENST00000427926.5:c.3946A>G ENSP00000441158.1:p.Met1316Val
ENST00000611723.1:n.690A>G
ENST00000615606.4:n.3966A>G
ENST00000617103.4:c.*101A>G ENSP00000480709.1:n.*101A>G
ENST00000617926.4:c.415A>G ENSP00000481031.1:p.Met139Val
ENST00000621271.4:c.3946A>G ENSP00000485020.1:p.Met1316Val
ENST00000622493.4:c.415A>G ENSP00000479237.1:p.Met139Val
NM_001835.3:c.3946A>G NP_001826.3:p.Met1316Val
NM_007098.3:c.3946A>G NP_009029.3:p.Met1316Val
XM_005277800.2:c.4009A>G XP_005277857.1:p.Met1337Val
XM_005277801.2:c.4009A>G XP_005277858.1:p.Met1337Val
XM_006724328.1:c.4009A>G XP_006724391.1:p.Met1337Val
XM_011530395.1:c.4009A>G XP_011528697.1:p.Met1337Val
XM_011530396.1:c.3895A>G XP_011528698.1:p.Met1299Val
XM_011530397.1:c.3736A>G XP_011528699.1:p.Met1246Val
XM_011530398.1:c.4009A>G XP_011528700.1:p.Met1337Val
XM_011530399.1:c.*101A>G XP_011528701.1:n.*101A>G
XM_011530401.1:c.2137A>G XP_011528703.1:p.Met713Val
XR_937923.1:n.3952A>G
XR_937924.1:n.3934A>G
XM_011530401.2:c.2137A>G XP_011528703.1:p.Met713Val
XM_017028953.2:c.3946A>G XP_016884442.1:p.Met1316Val
XM_017028954.2:c.3832A>G XP_016884443.1:p.Met1278Val
XM_017028955.2:c.3730A>G XP_016884444.1:p.Met1244Val
XM_017028956.2:c.3946A>G XP_016884445.1:p.Met1316Val
XR_001755309.2:n.4019A>G
XR_001755310.2:n.3957A>G
XR_001755311.2:n.3865A>G
XR_001755312.2:n.3865A>G
XR_001755313.2:n.3861A>G
XR_001755314.2:n.3861A>G
XR_002958736.1:n.186T>C
XR_937923.3:n.3957A>G
NM_007098.4:c.3946A>G MANE Select NP_009029.3:p.Met1316Val
NM_001835.4:c.3946A>G NP_001826.3:p.Met1316Val