Canonical Allele Identifier: CA1539651469
Gene: CPLANE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37153977C= , CM000667.2:g.37153977C= GRCh38
NC_000005.9:g.37154079C= , CM000667.1:g.37154079C= GRCh37
NC_000005.8:g.37189836C= NCBI36
NG_032772.1:g.100452G=
NG_032772.2:g.100452G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000510830.2:n.1135G=
ENST00000651892.2:c.8136G= MANE Select ENSP00000498265.2:p.Glu2712=
ENST00000425232.6:c.7974G= ENSP00000389014.2:p.Glu2658=
ENST00000508244.5:c.7974G= ENSP00000421690.1:p.Glu2658=
ENST00000509849.5:c.5148G= ENSP00000426337.1:p.Glu1716=
ENST00000509957.5:n.378G=
ENST00000511210.5:n.427G=
ENST00000511824.2:c.1250G=
ENST00000514429.5:c.5172G= ENSP00000424223.1:p.Glu1724=
ENST00000515380.1:n.388G=
NM_023073.3:c.7974G= NP_075561.3:p.Glu2658=
XM_005248345.2:c.8136G= XP_005248402.1:p.Glu2712=
XM_005248346.2:c.8133G= XP_005248403.1:p.Glu2711=
XM_005248347.2:c.8133G= XP_005248404.1:p.Glu2711=
XM_005248349.2:c.8025G= XP_005248406.1:p.Glu2675=
XM_005248350.2:c.8007G= XP_005248407.1:p.Glu2669=
XM_005248353.3:c.4779G= XP_005248410.1:p.Glu1593=
XM_006714489.2:c.8136G= XP_006714552.1:p.Glu2712=
XM_006714491.2:c.2709G= XP_006714554.1:p.Glu903=
XM_011514085.1:c.8136G= XP_011512387.1:p.Glu2712=
XM_011514086.1:c.8136G= XP_011512388.1:p.Glu2712=
XM_011514087.1:c.8082G= XP_011512389.1:p.Glu2694=
XM_011514088.1:c.8028G= XP_011512390.1:p.Glu2676=
XM_011514089.1:c.8136G= XP_011512391.1:p.Glu2712=
XM_011514090.1:c.7818G= XP_011512392.1:p.Glu2606=
XM_011514091.1:c.7464G= XP_011512393.1:p.Glu2488=
XM_011514092.1:c.8136G= XP_011512394.1:p.Glu2712=
XM_011514094.1:c.5361G= XP_011512396.1:p.Glu1787=
XR_427661.2:n.8311G=
XR_925644.1:n.8311G=
XM_005248345.4:c.8136G= XP_005248402.1:p.Glu2712=
XM_005248346.4:c.8133G= XP_005248403.1:p.Glu2711=
XM_005248347.4:c.8133G= XP_005248404.1:p.Glu2711=
XM_005248349.4:c.8025G= XP_005248406.1:p.Glu2675=
XM_005248350.4:c.8007G= XP_005248407.1:p.Glu2669=
XM_006714491.3:c.2709G= XP_006714554.1:p.Glu903=
XM_011514085.3:c.8136G= XP_011512387.1:p.Glu2712=
XM_011514086.3:c.8136G= XP_011512388.1:p.Glu2712=
XM_011514087.2:c.8082G= XP_011512389.1:p.Glu2694=
XM_011514088.2:c.8028G= XP_011512390.1:p.Glu2676=
XM_011514089.2:c.8136G= XP_011512391.1:p.Glu2712=
XM_011514090.3:c.7818G= XP_011512392.1:p.Glu2606=
XM_011514092.2:c.8136G= XP_011512394.1:p.Glu2712=
XM_011514094.2:c.5361G= XP_011512396.1:p.Glu1787=
XM_017009760.1:c.7947G= XP_016865249.1:p.Glu2649=
XM_017009761.2:c.7947G= XP_016865250.1:p.Glu2649=
XM_017009763.1:c.7143G= XP_016865252.1:p.Glu2381=
XM_017009765.1:c.6948G= XP_016865254.1:p.Glu2316=
XM_017009766.1:c.4779G= XP_016865255.1:p.Glu1593=
XM_024446183.1:c.7947G= XP_024301951.1:p.Glu2649=
XM_024446184.1:c.7818G= XP_024301952.1:p.Glu2606=
XM_024446185.1:c.7464G= XP_024301953.1:p.Glu2488=
XM_024446186.1:c.7143G= XP_024301954.1:p.Glu2381=
XR_001742208.1:n.8305G=
XR_002956171.1:n.8251G=
XR_925644.2:n.8360G=
NM_001384732.1:c.8136G= MANE Select NP_001371661.1:p.Glu2712=
NM_023073.4:c.7974G= NP_075561.3:p.Glu2658=