Canonical Allele Identifier: CA1539656315
Gene: CPLANE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37157418C= , CM000667.2:g.37157418C= GRCh38
NC_000005.9:g.37157520C= , CM000667.1:g.37157520C= GRCh37
NC_000005.8:g.37193277C= NCBI36
NG_032772.1:g.97011G=
NG_032772.2:g.97011G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000510830.2:n.1013G=
ENST00000651892.2:c.8014G= MANE Select ENSP00000498265.2:p.Val2672=
ENST00000425232.6:c.7957+252G= ENSP00000389014.2:n.7957+252G=
ENST00000508244.5:c.7957+252G= ENSP00000421690.1:n.7957+252G=
ENST00000509849.5:c.5026G= ENSP00000426337.1:p.Val1676=
ENST00000509957.5:n.256G=
ENST00000511210.5:n.305G=
ENST00000511824.2:c.1128G=
ENST00000514429.5:c.5155+252G= ENSP00000424223.1:n.5155+252G=
ENST00000515380.1:n.266G=
NM_023073.3:c.7957+252G= NP_075561.3:n.7957+252G=
XM_005248345.2:c.8014G= XP_005248402.1:p.Val2672=
XM_005248346.2:c.8011G= XP_005248403.1:p.Val2671=
XM_005248347.2:c.8011G= XP_005248404.1:p.Val2671=
XM_005248349.2:c.8008+252G= XP_005248406.1:n.8008+252G=
XM_005248350.2:c.7885G= XP_005248407.1:p.Val2629=
XM_005248353.3:c.4657G= XP_005248410.1:p.Val1553=
XM_006714489.2:c.8014G= XP_006714552.1:p.Val2672=
XM_006714491.2:c.2587G= XP_006714554.1:p.Val863=
XM_011514085.1:c.8014G= XP_011512387.1:p.Val2672=
XM_011514086.1:c.8014G= XP_011512388.1:p.Val2672=
XM_011514087.1:c.7960G= XP_011512389.1:p.Val2654=
XM_011514088.1:c.8011+252G= XP_011512390.1:n.8011+252G=
XM_011514089.1:c.8014G= XP_011512391.1:p.Val2672=
XM_011514090.1:c.7696G= XP_011512392.1:p.Val2566=
XM_011514091.1:c.7342G= XP_011512393.1:p.Val2448=
XM_011514092.1:c.8014G= XP_011512394.1:p.Val2672=
XM_011514094.1:c.5239G= XP_011512396.1:p.Val1747=
XR_427661.2:n.8189G=
XR_925644.1:n.8189G=
XM_005248345.4:c.8014G= XP_005248402.1:p.Val2672=
XM_005248346.4:c.8011G= XP_005248403.1:p.Val2671=
XM_005248347.4:c.8011G= XP_005248404.1:p.Val2671=
XM_005248349.4:c.8008+252G= XP_005248406.1:n.8008+252G=
XM_005248350.4:c.7885G= XP_005248407.1:p.Val2629=
XM_006714491.3:c.2587G= XP_006714554.1:p.Val863=
XM_011514085.3:c.8014G= XP_011512387.1:p.Val2672=
XM_011514086.3:c.8014G= XP_011512388.1:p.Val2672=
XM_011514087.2:c.7960G= XP_011512389.1:p.Val2654=
XM_011514088.2:c.8011+252G= XP_011512390.1:n.8011+252G=
XM_011514089.2:c.8014G= XP_011512391.1:p.Val2672=
XM_011514090.3:c.7696G= XP_011512392.1:p.Val2566=
XM_011514092.2:c.8014G= XP_011512394.1:p.Val2672=
XM_011514094.2:c.5239G= XP_011512396.1:p.Val1747=
XM_017009760.1:c.7825G= XP_016865249.1:p.Val2609=
XM_017009761.2:c.7825G= XP_016865250.1:p.Val2609=
XM_017009763.1:c.7021G= XP_016865252.1:p.Val2341=
XM_017009765.1:c.6826G= XP_016865254.1:p.Val2276=
XM_017009766.1:c.4657G= XP_016865255.1:p.Val1553=
XM_024446183.1:c.7825G= XP_024301951.1:p.Val2609=
XM_024446184.1:c.7696G= XP_024301952.1:p.Val2566=
XM_024446185.1:c.7342G= XP_024301953.1:p.Val2448=
XM_024446186.1:c.7021G= XP_024301954.1:p.Val2341=
XR_001742208.1:n.8183G=
XR_002956171.1:n.8129G=
XR_925644.2:n.8238G=
NM_001384732.1:c.8014G= MANE Select NP_001371661.1:p.Val2672=
NM_023073.4:c.7957+252G= NP_075561.3:n.7957+252G=