Canonical Allele Identifier: CA444096771
Gene: CPLANE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2027630
ClinVar RCV Id: RCV002866715
MyVariant Identifiers: chr5:g.37154055T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37153953T>C , CM000667.2:g.37153953T>C GRCh38
NC_000005.9:g.37154055T>C , CM000667.1:g.37154055T>C GRCh37
NC_000005.8:g.37189812T>C NCBI36
NG_032772.1:g.100476A>G
NG_032772.2:g.100476A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000510830.2:n.1159A>G
ENST00000651892.2:c.8160A>G MANE Select ENSP00000498265.2:p.Thr2720=
ENST00000425232.6:c.7998A>G ENSP00000389014.2:p.Thr2666=
ENST00000508244.5:c.7998A>G ENSP00000421690.1:p.Thr2666=
ENST00000509849.5:c.5172A>G ENSP00000426337.1:p.Thr1724=
ENST00000509957.5:n.402A>G
ENST00000511210.5:n.451A>G
ENST00000511824.2:c.1274A>G
ENST00000514429.5:c.5196A>G ENSP00000424223.1:p.Thr1732=
ENST00000515380.1:n.412A>G
NM_023073.3:c.7998A>G NP_075561.3:p.Thr2666=
XM_005248345.2:c.8160A>G XP_005248402.1:p.Thr2720=
XM_005248346.2:c.8157A>G XP_005248403.1:p.Thr2719=
XM_005248347.2:c.8157A>G XP_005248404.1:p.Thr2719=
XM_005248349.2:c.8049A>G XP_005248406.1:p.Thr2683=
XM_005248350.2:c.8031A>G XP_005248407.1:p.Thr2677=
XM_005248353.3:c.4803A>G XP_005248410.1:p.Thr1601=
XM_006714489.2:c.8160A>G XP_006714552.1:p.Thr2720=
XM_006714491.2:c.2733A>G XP_006714554.1:p.Thr911=
XM_011514085.1:c.8160A>G XP_011512387.1:p.Thr2720=
XM_011514086.1:c.8160A>G XP_011512388.1:p.Thr2720=
XM_011514087.1:c.8106A>G XP_011512389.1:p.Thr2702=
XM_011514088.1:c.8052A>G XP_011512390.1:p.Thr2684=
XM_011514089.1:c.8160A>G XP_011512391.1:p.Thr2720=
XM_011514090.1:c.7842A>G XP_011512392.1:p.Thr2614=
XM_011514091.1:c.7488A>G XP_011512393.1:p.Thr2496=
XM_011514092.1:c.8160A>G XP_011512394.1:p.Thr2720=
XM_011514094.1:c.5385A>G XP_011512396.1:p.Thr1795=
XR_427661.2:n.8335A>G
XR_925644.1:n.8335A>G
XM_005248345.4:c.8160A>G XP_005248402.1:p.Thr2720=
XM_005248346.4:c.8157A>G XP_005248403.1:p.Thr2719=
XM_005248347.4:c.8157A>G XP_005248404.1:p.Thr2719=
XM_005248349.4:c.8049A>G XP_005248406.1:p.Thr2683=
XM_005248350.4:c.8031A>G XP_005248407.1:p.Thr2677=
XM_006714491.3:c.2733A>G XP_006714554.1:p.Thr911=
XM_011514085.3:c.8160A>G XP_011512387.1:p.Thr2720=
XM_011514086.3:c.8160A>G XP_011512388.1:p.Thr2720=
XM_011514087.2:c.8106A>G XP_011512389.1:p.Thr2702=
XM_011514088.2:c.8052A>G XP_011512390.1:p.Thr2684=
XM_011514089.2:c.8160A>G XP_011512391.1:p.Thr2720=
XM_011514090.3:c.7842A>G XP_011512392.1:p.Thr2614=
XM_011514092.2:c.8160A>G XP_011512394.1:p.Thr2720=
XM_011514094.2:c.5385A>G XP_011512396.1:p.Thr1795=
XM_017009760.1:c.7971A>G XP_016865249.1:p.Thr2657=
XM_017009761.2:c.7971A>G XP_016865250.1:p.Thr2657=
XM_017009763.1:c.7167A>G XP_016865252.1:p.Thr2389=
XM_017009765.1:c.6972A>G XP_016865254.1:p.Thr2324=
XM_017009766.1:c.4803A>G XP_016865255.1:p.Thr1601=
XM_024446183.1:c.7971A>G XP_024301951.1:p.Thr2657=
XM_024446184.1:c.7842A>G XP_024301952.1:p.Thr2614=
XM_024446185.1:c.7488A>G XP_024301953.1:p.Thr2496=
XM_024446186.1:c.7167A>G XP_024301954.1:p.Thr2389=
XR_001742208.1:n.8329A>G
XR_002956171.1:n.8275A>G
XR_925644.2:n.8384A>G
NM_001384732.1:c.8160A>G MANE Select NP_001371661.1:p.Thr2720=
NM_023073.4:c.7998A>G NP_075561.3:p.Thr2666=