Canonical Allele Identifier: CA10097640
Gene: CLTCL1 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19183443C>G , CM000684.2:g.19183443C>G GRCh38
NC_000022.10:g.19170956C>G , CM000684.1:g.19170956C>G GRCh37
NC_000022.9:g.17550956C>G NCBI36
NG_033805.1:g.113274G>C
NG_033863.1:g.421G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000427926.6:c.4774G>C MANE Select ENSP00000441158.1:p.Val1592Leu
ENST00000412649.5:n.1389G>C
ENST00000427926.5:c.4774G>C ENSP00000441158.1:p.Val1592Leu
ENST00000615606.4:n.4867G>C
ENST00000617103.4:c.*929G>C ENSP00000480709.1:n.*929G>C
ENST00000617926.4:c.1243G>C ENSP00000481031.1:p.Val415Leu
ENST00000621271.4:c.4603G>C ENSP00000485020.1:p.Val1535Leu
ENST00000622493.4:c.961G>C ENSP00000479237.1:p.Val321Leu
NM_001835.3:c.4603G>C NP_001826.3:p.Val1535Leu
NM_007098.3:c.4774G>C NP_009029.3:p.Val1592Leu
XM_005277800.2:c.4837G>C XP_005277857.1:p.Val1613Leu
XM_005277801.2:c.4666G>C XP_005277858.1:p.Val1556Leu
XM_006724328.1:c.4555G>C XP_006724391.1:p.Val1519Leu
XM_011530395.1:c.4837G>C XP_011528697.1:p.Val1613Leu
XM_011530396.1:c.4723G>C XP_011528698.1:p.Val1575Leu
XM_011530397.1:c.4564G>C XP_011528699.1:p.Val1522Leu
XM_011530401.1:c.2965G>C XP_011528703.1:p.Val989Leu
XR_937924.1:n.4480G>C
XM_011530401.2:c.2965G>C XP_011528703.1:p.Val989Leu
XM_017028953.2:c.4774G>C XP_016884442.1:p.Val1592Leu
XM_017028954.2:c.4660G>C XP_016884443.1:p.Val1554Leu
XM_017028955.2:c.4558G>C XP_016884444.1:p.Val1520Leu
XM_017028956.2:c.4492G>C XP_016884445.1:p.Val1498Leu
XR_001755309.2:n.4981G>C
XR_001755310.2:n.4785G>C
XR_001755311.2:n.4522G>C
XR_001755312.2:n.4411G>C
XR_001755313.2:n.4518G>C
XR_001755314.2:n.4407G>C
XR_937923.3:n.4614G>C
NM_007098.4:c.4774G>C MANE Select NP_009029.3:p.Val1592Leu
NM_001835.4:c.4603G>C NP_001826.3:p.Val1535Leu