Canonical Allele Identifier: CA359498299
Gene: CPLANE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37125246G>C , CM000667.2:g.37125246G>C GRCh38
NC_000005.9:g.37125348G>C , CM000667.1:g.37125348G>C GRCh37
NC_000005.8:g.37161105G>C NCBI36
NG_032772.1:g.129183C>G
NG_032772.2:g.129183C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000510830.2:n.1955C>G
ENST00000651892.2:c.8956C>G MANE Select ENSP00000498265.2:p.Pro2986Ala
ENST00000676160.1:n.817C>G
ENST00000425232.6:c.8794C>G ENSP00000389014.2:p.Pro2932Ala
ENST00000508244.5:c.8794C>G ENSP00000421690.1:p.Pro2932Ala
ENST00000509849.5:c.5968C>G ENSP00000426337.1:n.5968C>G
ENST00000509957.5:n.4137C>G
ENST00000512288.5:n.342-3462C>G
ENST00000514429.5:c.5992C>G ENSP00000424223.1:p.Pro1998Ala
NM_023073.3:c.8794C>G NP_075561.3:p.Pro2932Ala
XM_005248345.2:c.8956C>G XP_005248402.1:p.Pro2986Ala
XM_005248346.2:c.8953C>G XP_005248403.1:p.Pro2985Ala
XM_005248347.2:c.8953C>G XP_005248404.1:p.Pro2985Ala
XM_005248349.2:c.8845C>G XP_005248406.1:p.Pro2949Ala
XM_005248350.2:c.8827C>G XP_005248407.1:p.Pro2943Ala
XM_005248353.3:c.5599C>G XP_005248410.1:p.Pro1867Ala
XM_006714489.2:c.8956C>G XP_006714552.1:p.Pro2986Ala
XM_006714491.2:c.3529C>G XP_006714554.1:p.Pro1177Ala
XM_011514085.1:c.8956C>G XP_011512387.1:p.Pro2986Ala
XM_011514086.1:c.8956C>G XP_011512388.1:p.Pro2986Ala
XM_011514087.1:c.8902C>G XP_011512389.1:p.Pro2968Ala
XM_011514088.1:c.8848C>G XP_011512390.1:p.Pro2950Ala
XM_011514089.1:c.8956C>G XP_011512391.1:p.Pro2986Ala
XM_011514090.1:c.8638C>G XP_011512392.1:p.Pro2880Ala
XM_011514091.1:c.8284C>G XP_011512393.1:p.Pro2762Ala
XM_011514092.1:c.8956C>G XP_011512394.1:p.Pro2986Ala
XM_011514094.1:c.6181C>G XP_011512396.1:p.Pro2061Ala
XR_427661.2:n.9131C>G
XR_925644.1:n.9131C>G
XM_005248345.4:c.8956C>G XP_005248402.1:p.Pro2986Ala
XM_005248346.4:c.8953C>G XP_005248403.1:p.Pro2985Ala
XM_005248347.4:c.8953C>G XP_005248404.1:p.Pro2985Ala
XM_005248349.4:c.8845C>G XP_005248406.1:p.Pro2949Ala
XM_005248350.4:c.8827C>G XP_005248407.1:p.Pro2943Ala
XM_006714491.3:c.3529C>G XP_006714554.1:p.Pro1177Ala
XM_011514085.3:c.8956C>G XP_011512387.1:p.Pro2986Ala
XM_011514086.3:c.8956C>G XP_011512388.1:p.Pro2986Ala
XM_011514087.2:c.8902C>G XP_011512389.1:p.Pro2968Ala
XM_011514088.2:c.8848C>G XP_011512390.1:p.Pro2950Ala
XM_011514089.2:c.8956C>G XP_011512391.1:p.Pro2986Ala
XM_011514090.3:c.8638C>G XP_011512392.1:p.Pro2880Ala
XM_011514092.2:c.8956C>G XP_011512394.1:p.Pro2986Ala
XM_011514094.2:c.6181C>G XP_011512396.1:p.Pro2061Ala
XM_017009760.1:c.8767C>G XP_016865249.1:p.Pro2923Ala
XM_017009761.2:c.8767C>G XP_016865250.1:p.Pro2923Ala
XM_017009763.1:c.7963C>G XP_016865252.1:p.Pro2655Ala
XM_017009765.1:c.7768C>G XP_016865254.1:p.Pro2590Ala
XM_017009766.1:c.5599C>G XP_016865255.1:p.Pro1867Ala
XM_024446183.1:c.8767C>G XP_024301951.1:p.Pro2923Ala
XM_024446184.1:c.8638C>G XP_024301952.1:p.Pro2880Ala
XM_024446185.1:c.8284C>G XP_024301953.1:p.Pro2762Ala
XM_024446186.1:c.7963C>G XP_024301954.1:p.Pro2655Ala
XR_925644.2:n.9180C>G
NM_001384732.1:c.8956C>G MANE Select NP_001371661.1:p.Pro2986Ala
NM_023073.4:c.8794C>G NP_075561.3:p.Pro2932Ala