Canonical Allele Identifier: CA359474359
Gene: CPLANE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37153968G>C , CM000667.2:g.37153968G>C GRCh38
NC_000005.9:g.37154070G>C , CM000667.1:g.37154070G>C GRCh37
NC_000005.8:g.37189827G>C NCBI36
NG_032772.1:g.100461C>G
NG_032772.2:g.100461C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000510830.2:n.1144C>G
ENST00000651892.2:c.8145C>G MANE Select ENSP00000498265.2:p.Phe2715Leu
ENST00000425232.6:c.7983C>G ENSP00000389014.2:p.Phe2661Leu
ENST00000508244.5:c.7983C>G ENSP00000421690.1:p.Phe2661Leu
ENST00000509849.5:c.5157C>G ENSP00000426337.1:p.Phe1719Leu
ENST00000509957.5:n.387C>G
ENST00000511210.5:n.436C>G
ENST00000511824.2:c.1259C>G
ENST00000514429.5:c.5181C>G ENSP00000424223.1:p.Phe1727Leu
ENST00000515380.1:n.397C>G
NM_023073.3:c.7983C>G NP_075561.3:p.Phe2661Leu
XM_005248345.2:c.8145C>G XP_005248402.1:p.Phe2715Leu
XM_005248346.2:c.8142C>G XP_005248403.1:p.Phe2714Leu
XM_005248347.2:c.8142C>G XP_005248404.1:p.Phe2714Leu
XM_005248349.2:c.8034C>G XP_005248406.1:p.Phe2678Leu
XM_005248350.2:c.8016C>G XP_005248407.1:p.Phe2672Leu
XM_005248353.3:c.4788C>G XP_005248410.1:p.Phe1596Leu
XM_006714489.2:c.8145C>G XP_006714552.1:p.Phe2715Leu
XM_006714491.2:c.2718C>G XP_006714554.1:p.Phe906Leu
XM_011514085.1:c.8145C>G XP_011512387.1:p.Phe2715Leu
XM_011514086.1:c.8145C>G XP_011512388.1:p.Phe2715Leu
XM_011514087.1:c.8091C>G XP_011512389.1:p.Phe2697Leu
XM_011514088.1:c.8037C>G XP_011512390.1:p.Phe2679Leu
XM_011514089.1:c.8145C>G XP_011512391.1:p.Phe2715Leu
XM_011514090.1:c.7827C>G XP_011512392.1:p.Phe2609Leu
XM_011514091.1:c.7473C>G XP_011512393.1:p.Phe2491Leu
XM_011514092.1:c.8145C>G XP_011512394.1:p.Phe2715Leu
XM_011514094.1:c.5370C>G XP_011512396.1:p.Phe1790Leu
XR_427661.2:n.8320C>G
XR_925644.1:n.8320C>G
XM_005248345.4:c.8145C>G XP_005248402.1:p.Phe2715Leu
XM_005248346.4:c.8142C>G XP_005248403.1:p.Phe2714Leu
XM_005248347.4:c.8142C>G XP_005248404.1:p.Phe2714Leu
XM_005248349.4:c.8034C>G XP_005248406.1:p.Phe2678Leu
XM_005248350.4:c.8016C>G XP_005248407.1:p.Phe2672Leu
XM_006714491.3:c.2718C>G XP_006714554.1:p.Phe906Leu
XM_011514085.3:c.8145C>G XP_011512387.1:p.Phe2715Leu
XM_011514086.3:c.8145C>G XP_011512388.1:p.Phe2715Leu
XM_011514087.2:c.8091C>G XP_011512389.1:p.Phe2697Leu
XM_011514088.2:c.8037C>G XP_011512390.1:p.Phe2679Leu
XM_011514089.2:c.8145C>G XP_011512391.1:p.Phe2715Leu
XM_011514090.3:c.7827C>G XP_011512392.1:p.Phe2609Leu
XM_011514092.2:c.8145C>G XP_011512394.1:p.Phe2715Leu
XM_011514094.2:c.5370C>G XP_011512396.1:p.Phe1790Leu
XM_017009760.1:c.7956C>G XP_016865249.1:p.Phe2652Leu
XM_017009761.2:c.7956C>G XP_016865250.1:p.Phe2652Leu
XM_017009763.1:c.7152C>G XP_016865252.1:p.Phe2384Leu
XM_017009765.1:c.6957C>G XP_016865254.1:p.Phe2319Leu
XM_017009766.1:c.4788C>G XP_016865255.1:p.Phe1596Leu
XM_024446183.1:c.7956C>G XP_024301951.1:p.Phe2652Leu
XM_024446184.1:c.7827C>G XP_024301952.1:p.Phe2609Leu
XM_024446185.1:c.7473C>G XP_024301953.1:p.Phe2491Leu
XM_024446186.1:c.7152C>G XP_024301954.1:p.Phe2384Leu
XR_001742208.1:n.8314C>G
XR_002956171.1:n.8260C>G
XR_925644.2:n.8369C>G
NM_001384732.1:c.8145C>G MANE Select NP_001371661.1:p.Phe2715Leu
NM_023073.4:c.7983C>G NP_075561.3:p.Phe2661Leu