Canonical Allele Identifier: CA400422588

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.59685644C>T , CM000679.2:g.59685644C>T GRCh38
NC_000017.10:g.57763005C>T , CM000679.1:g.57763005C>T GRCh37
NC_000017.9:g.55117787C>T NCBI36
NG_047043.1:g.70956C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004859.4:c.4663C>T (CLTC) MANE Select NP_004850.1:p.Gln1555Ter
ENST00000269122.8:c.4663C>T (CLTC) MANE Select ENSP00000269122.3:p.Gln1555Ter
NM_001288653.1:c.4675C>T (CLTC) NP_001275582.1:p.Gln1559Ter
NM_001288653.2:c.4675C>T (CLTC) NP_001275582.1:p.Gln1559Ter
NM_004859.3:c.4663C>T (CLTC) NP_004850.1:p.Gln1555Ter
ENST00000269122.7:c.4663C>T (CLTC) ENSP00000269122.3:p.Gln1555Ter
ENST00000393043.5:c.4663C>T (CLTC) ENSP00000376763.1:p.Gln1555Ter
ENST00000472651.5:c.309C>T (CLTC)
ENST00000472651.6:c.4663C>T (CLTC) ENSP00000465200.2:p.Gln1555Ter
ENST00000475458.1:c.168C>T (CLTC)
ENST00000475458.2:c.2014C>T (CLTC) ENSP00000461977.2:p.Gln672Ter
ENST00000579456.5:c.1474C>T (CLTC) ENSP00000462252.1:p.Gln492Ter
ENST00000580081.2:c.4675C>T (CLTC) ENSP00000462592.2:p.Gln1559Ter
ENST00000587935.1:n.46-6100G>A (PTRH2)
ENST00000621829.4:c.4675C>T (CLTC) ENSP00000479606.1:p.Gln1559Ter
ENST00000700707.1:c.4663C>T (CLTC) ENSP00000515147.1:p.Gln1555Ter
ENST00000700708.1:c.4489C>T (CLTC) ENSP00000515148.1:p.Gln1497Ter
ENST00000700709.1:c.4678C>T (CLTC) ENSP00000515149.1:p.Gln1560Ter
ENST00000700710.1:c.4375C>T (CLTC) ENSP00000515150.1:p.Gln1459Ter
ENST00000700711.1:c.4675C>T (CLTC) ENSP00000515151.1:p.Gln1559Ter
ENST00000700712.1:c.4570C>T (CLTC) ENSP00000515152.1:p.Gln1524Ter
ENST00000700713.1:c.4666C>T (CLTC) ENSP00000515153.1:p.Gln1556Ter
ENST00000700714.1:c.4165C>T (CLTC) ENSP00000515154.1:p.Gln1389Ter
ENST00000700715.1:c.166C>T (CLTC) ENSP00000515155.1:p.Gln56Ter
XM_005257012.2:c.4663C>T (CLTC) XP_005257069.1:p.Gln1555Ter
XM_005257012.4:c.4663C>T (CLTC) XP_005257069.1:p.Gln1555Ter
XM_011524279.1:c.4663C>T (CLTC) XP_011522581.1:p.Gln1555Ter
XM_011524280.1:c.4570C>T (CLTC) XP_011522582.1:p.Gln1524Ter
XM_011524281.1:c.4663C>T (CLTC) XP_011522583.1:p.Gln1555Ter