Canonical Allele Identifier: CA359473664
Gene: CPLANE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37153774G>T , CM000667.2:g.37153774G>T GRCh38
NC_000005.9:g.37153876G>T , CM000667.1:g.37153876G>T GRCh37
NC_000005.8:g.37189633G>T NCBI36
NG_032772.1:g.100655C>A
NG_032772.2:g.100655C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000510830.2:n.1338C>A
ENST00000651892.2:c.8339C>A MANE Select ENSP00000498265.2:p.Pro2780His
ENST00000425232.6:c.8177C>A ENSP00000389014.2:p.Pro2726His
ENST00000508244.5:c.8177C>A ENSP00000421690.1:p.Pro2726His
ENST00000508405.1:n.71C>A
ENST00000509849.5:c.5351C>A ENSP00000426337.1:p.Pro1784His
ENST00000509957.5:n.581C>A
ENST00000511824.2:c.1453C>A
ENST00000514429.5:c.5375C>A ENSP00000424223.1:p.Pro1792His
NM_023073.3:c.8177C>A NP_075561.3:p.Pro2726His
XM_005248345.2:c.8339C>A XP_005248402.1:p.Pro2780His
XM_005248346.2:c.8336C>A XP_005248403.1:p.Pro2779His
XM_005248347.2:c.8336C>A XP_005248404.1:p.Pro2779His
XM_005248349.2:c.8228C>A XP_005248406.1:p.Pro2743His
XM_005248350.2:c.8210C>A XP_005248407.1:p.Pro2737His
XM_005248353.3:c.4982C>A XP_005248410.1:p.Pro1661His
XM_006714489.2:c.8339C>A XP_006714552.1:p.Pro2780His
XM_006714491.2:c.2912C>A XP_006714554.1:p.Pro971His
XM_011514085.1:c.8339C>A XP_011512387.1:p.Pro2780His
XM_011514086.1:c.8339C>A XP_011512388.1:p.Pro2780His
XM_011514087.1:c.8285C>A XP_011512389.1:p.Pro2762His
XM_011514088.1:c.8231C>A XP_011512390.1:p.Pro2744His
XM_011514089.1:c.8339C>A XP_011512391.1:p.Pro2780His
XM_011514090.1:c.8021C>A XP_011512392.1:p.Pro2674His
XM_011514091.1:c.7667C>A XP_011512393.1:p.Pro2556His
XM_011514092.1:c.8339C>A XP_011512394.1:p.Pro2780His
XM_011514094.1:c.5564C>A XP_011512396.1:p.Pro1855His
XR_427661.2:n.8514C>A
XR_925644.1:n.8514C>A
XM_005248345.4:c.8339C>A XP_005248402.1:p.Pro2780His
XM_005248346.4:c.8336C>A XP_005248403.1:p.Pro2779His
XM_005248347.4:c.8336C>A XP_005248404.1:p.Pro2779His
XM_005248349.4:c.8228C>A XP_005248406.1:p.Pro2743His
XM_005248350.4:c.8210C>A XP_005248407.1:p.Pro2737His
XM_006714491.3:c.2912C>A XP_006714554.1:p.Pro971His
XM_011514085.3:c.8339C>A XP_011512387.1:p.Pro2780His
XM_011514086.3:c.8339C>A XP_011512388.1:p.Pro2780His
XM_011514087.2:c.8285C>A XP_011512389.1:p.Pro2762His
XM_011514088.2:c.8231C>A XP_011512390.1:p.Pro2744His
XM_011514089.2:c.8339C>A XP_011512391.1:p.Pro2780His
XM_011514090.3:c.8021C>A XP_011512392.1:p.Pro2674His
XM_011514092.2:c.8339C>A XP_011512394.1:p.Pro2780His
XM_011514094.2:c.5564C>A XP_011512396.1:p.Pro1855His
XM_017009760.1:c.8150C>A XP_016865249.1:p.Pro2717His
XM_017009761.2:c.8150C>A XP_016865250.1:p.Pro2717His
XM_017009763.1:c.7346C>A XP_016865252.1:p.Pro2449His
XM_017009765.1:c.7151C>A XP_016865254.1:p.Pro2384His
XM_017009766.1:c.4982C>A XP_016865255.1:p.Pro1661His
XM_024446183.1:c.8150C>A XP_024301951.1:p.Pro2717His
XM_024446184.1:c.8021C>A XP_024301952.1:p.Pro2674His
XM_024446185.1:c.7667C>A XP_024301953.1:p.Pro2556His
XM_024446186.1:c.7346C>A XP_024301954.1:p.Pro2449His
XR_001742208.1:n.8508C>A
XR_002956171.1:n.8454C>A
XR_925644.2:n.8563C>A
NM_001384732.1:c.8339C>A MANE Select NP_001371661.1:p.Pro2780His
NM_023073.4:c.8177C>A NP_075561.3:p.Pro2726His