Canonical Allele Identifier: CA410658075
Gene: CLTCL1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000427926.6:c.3946A>T MANE Select ENSP00000441158.1:p.Met1316Leu
ENST00000427926.5:c.3946A>T ENSP00000441158.1:p.Met1316Leu
ENST00000611723.1:n.690A>T
ENST00000615606.4:n.3966A>T
ENST00000617103.4:c.*101A>T ENSP00000480709.1:n.*101A>T
ENST00000617926.4:c.415A>T ENSP00000481031.1:p.Met139Leu
ENST00000621271.4:c.3946A>T ENSP00000485020.1:p.Met1316Leu
ENST00000622493.4:c.415A>T ENSP00000479237.1:p.Met139Leu
NM_001835.3:c.3946A>T NP_001826.3:p.Met1316Leu
NM_007098.3:c.3946A>T NP_009029.3:p.Met1316Leu
XM_005277800.2:c.4009A>T XP_005277857.1:p.Met1337Leu
XM_005277801.2:c.4009A>T XP_005277858.1:p.Met1337Leu
XM_006724328.1:c.4009A>T XP_006724391.1:p.Met1337Leu
XM_011530395.1:c.4009A>T XP_011528697.1:p.Met1337Leu
XM_011530396.1:c.3895A>T XP_011528698.1:p.Met1299Leu
XM_011530397.1:c.3736A>T XP_011528699.1:p.Met1246Leu
XM_011530398.1:c.4009A>T XP_011528700.1:p.Met1337Leu
XM_011530399.1:c.*101A>T XP_011528701.1:n.*101A>T
XM_011530401.1:c.2137A>T XP_011528703.1:p.Met713Leu
XR_937923.1:n.3952A>T
XR_937924.1:n.3934A>T
XM_011530401.2:c.2137A>T XP_011528703.1:p.Met713Leu
XM_017028953.2:c.3946A>T XP_016884442.1:p.Met1316Leu
XM_017028954.2:c.3832A>T XP_016884443.1:p.Met1278Leu
XM_017028955.2:c.3730A>T XP_016884444.1:p.Met1244Leu
XM_017028956.2:c.3946A>T XP_016884445.1:p.Met1316Leu
XR_001755309.2:n.4019A>T
XR_001755310.2:n.3957A>T
XR_001755311.2:n.3865A>T
XR_001755312.2:n.3865A>T
XR_001755313.2:n.3861A>T
XR_001755314.2:n.3861A>T
XR_002958736.1:n.186T>A
XR_937923.3:n.3957A>T
NM_007098.4:c.3946A>T MANE Select NP_009029.3:p.Met1316Leu
NM_001835.4:c.3946A>T NP_001826.3:p.Met1316Leu