Canonical Allele Identifier: CA359474408
Gene: CPLANE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37153982G>T , CM000667.2:g.37153982G>T GRCh38
NC_000005.9:g.37154084G>T , CM000667.1:g.37154084G>T GRCh37
NC_000005.8:g.37189841G>T NCBI36
NG_032772.1:g.100447C>A
NG_032772.2:g.100447C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000510830.2:n.1130C>A
ENST00000651892.2:c.8131C>A MANE Select ENSP00000498265.2:p.Pro2711Thr
ENST00000425232.6:c.7969C>A ENSP00000389014.2:p.Pro2657Thr
ENST00000508244.5:c.7969C>A ENSP00000421690.1:p.Pro2657Thr
ENST00000509849.5:c.5143C>A ENSP00000426337.1:p.Pro1715Thr
ENST00000509957.5:n.373C>A
ENST00000511210.5:n.422C>A
ENST00000511824.2:c.1245C>A
ENST00000514429.5:c.5167C>A ENSP00000424223.1:p.Pro1723Thr
ENST00000515380.1:n.383C>A
NM_023073.3:c.7969C>A NP_075561.3:p.Pro2657Thr
XM_005248345.2:c.8131C>A XP_005248402.1:p.Pro2711Thr
XM_005248346.2:c.8128C>A XP_005248403.1:p.Pro2710Thr
XM_005248347.2:c.8128C>A XP_005248404.1:p.Pro2710Thr
XM_005248349.2:c.8020C>A XP_005248406.1:p.Pro2674Thr
XM_005248350.2:c.8002C>A XP_005248407.1:p.Pro2668Thr
XM_005248353.3:c.4774C>A XP_005248410.1:p.Pro1592Thr
XM_006714489.2:c.8131C>A XP_006714552.1:p.Pro2711Thr
XM_006714491.2:c.2704C>A XP_006714554.1:p.Pro902Thr
XM_011514085.1:c.8131C>A XP_011512387.1:p.Pro2711Thr
XM_011514086.1:c.8131C>A XP_011512388.1:p.Pro2711Thr
XM_011514087.1:c.8077C>A XP_011512389.1:p.Pro2693Thr
XM_011514088.1:c.8023C>A XP_011512390.1:p.Pro2675Thr
XM_011514089.1:c.8131C>A XP_011512391.1:p.Pro2711Thr
XM_011514090.1:c.7813C>A XP_011512392.1:p.Pro2605Thr
XM_011514091.1:c.7459C>A XP_011512393.1:p.Pro2487Thr
XM_011514092.1:c.8131C>A XP_011512394.1:p.Pro2711Thr
XM_011514094.1:c.5356C>A XP_011512396.1:p.Pro1786Thr
XR_427661.2:n.8306C>A
XR_925644.1:n.8306C>A
XM_005248345.4:c.8131C>A XP_005248402.1:p.Pro2711Thr
XM_005248346.4:c.8128C>A XP_005248403.1:p.Pro2710Thr
XM_005248347.4:c.8128C>A XP_005248404.1:p.Pro2710Thr
XM_005248349.4:c.8020C>A XP_005248406.1:p.Pro2674Thr
XM_005248350.4:c.8002C>A XP_005248407.1:p.Pro2668Thr
XM_006714491.3:c.2704C>A XP_006714554.1:p.Pro902Thr
XM_011514085.3:c.8131C>A XP_011512387.1:p.Pro2711Thr
XM_011514086.3:c.8131C>A XP_011512388.1:p.Pro2711Thr
XM_011514087.2:c.8077C>A XP_011512389.1:p.Pro2693Thr
XM_011514088.2:c.8023C>A XP_011512390.1:p.Pro2675Thr
XM_011514089.2:c.8131C>A XP_011512391.1:p.Pro2711Thr
XM_011514090.3:c.7813C>A XP_011512392.1:p.Pro2605Thr
XM_011514092.2:c.8131C>A XP_011512394.1:p.Pro2711Thr
XM_011514094.2:c.5356C>A XP_011512396.1:p.Pro1786Thr
XM_017009760.1:c.7942C>A XP_016865249.1:p.Pro2648Thr
XM_017009761.2:c.7942C>A XP_016865250.1:p.Pro2648Thr
XM_017009763.1:c.7138C>A XP_016865252.1:p.Pro2380Thr
XM_017009765.1:c.6943C>A XP_016865254.1:p.Pro2315Thr
XM_017009766.1:c.4774C>A XP_016865255.1:p.Pro1592Thr
XM_024446183.1:c.7942C>A XP_024301951.1:p.Pro2648Thr
XM_024446184.1:c.7813C>A XP_024301952.1:p.Pro2605Thr
XM_024446185.1:c.7459C>A XP_024301953.1:p.Pro2487Thr
XM_024446186.1:c.7138C>A XP_024301954.1:p.Pro2380Thr
XR_001742208.1:n.8300C>A
XR_002956171.1:n.8246C>A
XR_925644.2:n.8355C>A
NM_001384732.1:c.8131C>A MANE Select NP_001371661.1:p.Pro2711Thr
NM_023073.4:c.7969C>A NP_075561.3:p.Pro2657Thr