Canonical Allele Identifier: CA10098686
Community Standard Title: NM_007098.4(CLTCL1):c.1396T>C (p.Leu466=)
Gene: CLTCL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19233291A>G , CM000684.2:g.19233291A>G GRCh38
NC_000022.10:g.19220814A>G , CM000684.1:g.19220814A>G GRCh37
NC_000022.9:g.17600814A>G NCBI36
NG_033805.1:g.63426T>C

Transcript Alleles

HGVS Amino-acid Change
NM_007098.4:c.1396T>C MANE Select NP_009029.3:p.Leu466=
ENST00000427926.6:c.1396T>C MANE Select ENSP00000441158.1:p.Leu466=
NM_001835.3:c.1396T>C NP_001826.3:p.Leu466=
NM_001835.4:c.1396T>C NP_001826.3:p.Leu466=
NM_007098.3:c.1396T>C NP_009029.3:p.Leu466=
ENST00000427926.5:c.1396T>C ENSP00000441158.1:p.Leu466=
ENST00000615606.4:n.1416T>C
ENST00000617103.4:c.1396T>C ENSP00000480709.1:p.Leu466=
ENST00000621271.4:c.1396T>C ENSP00000485020.1:p.Leu466=
XM_005277800.2:c.1459T>C XP_005277857.1:p.Leu487=
XM_005277801.2:c.1459T>C XP_005277858.1:p.Leu487=
XM_006724328.1:c.1459T>C XP_006724391.1:p.Leu487=
XM_011530395.1:c.1459T>C XP_011528697.1:p.Leu487=
XM_011530396.1:c.1345T>C XP_011528698.1:p.Leu449=
XM_011530397.1:c.1459T>C XP_011528699.1:p.Leu487=
XM_011530398.1:c.1459T>C XP_011528700.1:p.Leu487=
XM_011530399.1:c.1459T>C XP_011528701.1:p.Leu487=
XM_011530400.1:c.1459T>C XP_011528702.1:p.Leu487=
XM_017028953.2:c.1396T>C XP_016884442.1:p.Leu466=
XM_017028954.2:c.1282T>C XP_016884443.1:p.Leu428=
XM_017028955.2:c.1396T>C XP_016884444.1:p.Leu466=
XM_017028956.2:c.1396T>C XP_016884445.1:p.Leu466=
XM_017028957.2:c.1396T>C XP_016884446.1:p.Leu466=
XR_001755309.2:n.1469T>C
XR_001755310.2:n.1469T>C
XR_001755311.2:n.1469T>C
XR_001755312.2:n.1469T>C
XR_001755313.2:n.1469T>C
XR_001755314.2:n.1469T>C
XR_937923.1:n.1464T>C
XR_937923.3:n.1469T>C
XR_937924.1:n.1542T>C