Canonical Allele Identifier: CA359474403
Gene: CPLANE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37153981G>T , CM000667.2:g.37153981G>T GRCh38
NC_000005.9:g.37154083G>T , CM000667.1:g.37154083G>T GRCh37
NC_000005.8:g.37189840G>T NCBI36
NG_032772.1:g.100448C>A
NG_032772.2:g.100448C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000510830.2:n.1131C>A
ENST00000651892.2:c.8132C>A MANE Select ENSP00000498265.2:p.Pro2711Gln
ENST00000425232.6:c.7970C>A ENSP00000389014.2:p.Pro2657Gln
ENST00000508244.5:c.7970C>A ENSP00000421690.1:p.Pro2657Gln
ENST00000509849.5:c.5144C>A ENSP00000426337.1:p.Pro1715Gln
ENST00000509957.5:n.374C>A
ENST00000511210.5:n.423C>A
ENST00000511824.2:c.1246C>A
ENST00000514429.5:c.5168C>A ENSP00000424223.1:p.Pro1723Gln
ENST00000515380.1:n.384C>A
NM_023073.3:c.7970C>A NP_075561.3:p.Pro2657Gln
XM_005248345.2:c.8132C>A XP_005248402.1:p.Pro2711Gln
XM_005248346.2:c.8129C>A XP_005248403.1:p.Pro2710Gln
XM_005248347.2:c.8129C>A XP_005248404.1:p.Pro2710Gln
XM_005248349.2:c.8021C>A XP_005248406.1:p.Pro2674Gln
XM_005248350.2:c.8003C>A XP_005248407.1:p.Pro2668Gln
XM_005248353.3:c.4775C>A XP_005248410.1:p.Pro1592Gln
XM_006714489.2:c.8132C>A XP_006714552.1:p.Pro2711Gln
XM_006714491.2:c.2705C>A XP_006714554.1:p.Pro902Gln
XM_011514085.1:c.8132C>A XP_011512387.1:p.Pro2711Gln
XM_011514086.1:c.8132C>A XP_011512388.1:p.Pro2711Gln
XM_011514087.1:c.8078C>A XP_011512389.1:p.Pro2693Gln
XM_011514088.1:c.8024C>A XP_011512390.1:p.Pro2675Gln
XM_011514089.1:c.8132C>A XP_011512391.1:p.Pro2711Gln
XM_011514090.1:c.7814C>A XP_011512392.1:p.Pro2605Gln
XM_011514091.1:c.7460C>A XP_011512393.1:p.Pro2487Gln
XM_011514092.1:c.8132C>A XP_011512394.1:p.Pro2711Gln
XM_011514094.1:c.5357C>A XP_011512396.1:p.Pro1786Gln
XR_427661.2:n.8307C>A
XR_925644.1:n.8307C>A
XM_005248345.4:c.8132C>A XP_005248402.1:p.Pro2711Gln
XM_005248346.4:c.8129C>A XP_005248403.1:p.Pro2710Gln
XM_005248347.4:c.8129C>A XP_005248404.1:p.Pro2710Gln
XM_005248349.4:c.8021C>A XP_005248406.1:p.Pro2674Gln
XM_005248350.4:c.8003C>A XP_005248407.1:p.Pro2668Gln
XM_006714491.3:c.2705C>A XP_006714554.1:p.Pro902Gln
XM_011514085.3:c.8132C>A XP_011512387.1:p.Pro2711Gln
XM_011514086.3:c.8132C>A XP_011512388.1:p.Pro2711Gln
XM_011514087.2:c.8078C>A XP_011512389.1:p.Pro2693Gln
XM_011514088.2:c.8024C>A XP_011512390.1:p.Pro2675Gln
XM_011514089.2:c.8132C>A XP_011512391.1:p.Pro2711Gln
XM_011514090.3:c.7814C>A XP_011512392.1:p.Pro2605Gln
XM_011514092.2:c.8132C>A XP_011512394.1:p.Pro2711Gln
XM_011514094.2:c.5357C>A XP_011512396.1:p.Pro1786Gln
XM_017009760.1:c.7943C>A XP_016865249.1:p.Pro2648Gln
XM_017009761.2:c.7943C>A XP_016865250.1:p.Pro2648Gln
XM_017009763.1:c.7139C>A XP_016865252.1:p.Pro2380Gln
XM_017009765.1:c.6944C>A XP_016865254.1:p.Pro2315Gln
XM_017009766.1:c.4775C>A XP_016865255.1:p.Pro1592Gln
XM_024446183.1:c.7943C>A XP_024301951.1:p.Pro2648Gln
XM_024446184.1:c.7814C>A XP_024301952.1:p.Pro2605Gln
XM_024446185.1:c.7460C>A XP_024301953.1:p.Pro2487Gln
XM_024446186.1:c.7139C>A XP_024301954.1:p.Pro2380Gln
XR_001742208.1:n.8301C>A
XR_002956171.1:n.8247C>A
XR_925644.2:n.8356C>A
NM_001384732.1:c.8132C>A MANE Select NP_001371661.1:p.Pro2711Gln
NM_023073.4:c.7970C>A NP_075561.3:p.Pro2657Gln