Canonical Allele Identifier: CA359474415
Gene: CPLANE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37153984T>A , CM000667.2:g.37153984T>A GRCh38
NC_000005.9:g.37154086T>A , CM000667.1:g.37154086T>A GRCh37
NC_000005.8:g.37189843T>A NCBI36
NG_032772.1:g.100445A>T
NG_032772.2:g.100445A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000510830.2:n.1128A>T
ENST00000651892.2:c.8129A>T MANE Select ENSP00000498265.2:p.Lys2710Ile
ENST00000425232.6:c.7967A>T ENSP00000389014.2:p.Lys2656Ile
ENST00000508244.5:c.7967A>T ENSP00000421690.1:p.Lys2656Ile
ENST00000509849.5:c.5141A>T ENSP00000426337.1:p.Lys1714Ile
ENST00000509957.5:n.371A>T
ENST00000511210.5:n.420A>T
ENST00000511824.2:c.1243A>T
ENST00000514429.5:c.5165A>T ENSP00000424223.1:p.Lys1722Ile
ENST00000515380.1:n.381A>T
NM_023073.3:c.7967A>T NP_075561.3:p.Lys2656Ile
XM_005248345.2:c.8129A>T XP_005248402.1:p.Lys2710Ile
XM_005248346.2:c.8126A>T XP_005248403.1:p.Lys2709Ile
XM_005248347.2:c.8126A>T XP_005248404.1:p.Lys2709Ile
XM_005248349.2:c.8018A>T XP_005248406.1:p.Lys2673Ile
XM_005248350.2:c.8000A>T XP_005248407.1:p.Lys2667Ile
XM_005248353.3:c.4772A>T XP_005248410.1:p.Lys1591Ile
XM_006714489.2:c.8129A>T XP_006714552.1:p.Lys2710Ile
XM_006714491.2:c.2702A>T XP_006714554.1:p.Lys901Ile
XM_011514085.1:c.8129A>T XP_011512387.1:p.Lys2710Ile
XM_011514086.1:c.8129A>T XP_011512388.1:p.Lys2710Ile
XM_011514087.1:c.8075A>T XP_011512389.1:p.Lys2692Ile
XM_011514088.1:c.8021A>T XP_011512390.1:p.Lys2674Ile
XM_011514089.1:c.8129A>T XP_011512391.1:p.Lys2710Ile
XM_011514090.1:c.7811A>T XP_011512392.1:p.Lys2604Ile
XM_011514091.1:c.7457A>T XP_011512393.1:p.Lys2486Ile
XM_011514092.1:c.8129A>T XP_011512394.1:p.Lys2710Ile
XM_011514094.1:c.5354A>T XP_011512396.1:p.Lys1785Ile
XR_427661.2:n.8304A>T
XR_925644.1:n.8304A>T
XM_005248345.4:c.8129A>T XP_005248402.1:p.Lys2710Ile
XM_005248346.4:c.8126A>T XP_005248403.1:p.Lys2709Ile
XM_005248347.4:c.8126A>T XP_005248404.1:p.Lys2709Ile
XM_005248349.4:c.8018A>T XP_005248406.1:p.Lys2673Ile
XM_005248350.4:c.8000A>T XP_005248407.1:p.Lys2667Ile
XM_006714491.3:c.2702A>T XP_006714554.1:p.Lys901Ile
XM_011514085.3:c.8129A>T XP_011512387.1:p.Lys2710Ile
XM_011514086.3:c.8129A>T XP_011512388.1:p.Lys2710Ile
XM_011514087.2:c.8075A>T XP_011512389.1:p.Lys2692Ile
XM_011514088.2:c.8021A>T XP_011512390.1:p.Lys2674Ile
XM_011514089.2:c.8129A>T XP_011512391.1:p.Lys2710Ile
XM_011514090.3:c.7811A>T XP_011512392.1:p.Lys2604Ile
XM_011514092.2:c.8129A>T XP_011512394.1:p.Lys2710Ile
XM_011514094.2:c.5354A>T XP_011512396.1:p.Lys1785Ile
XM_017009760.1:c.7940A>T XP_016865249.1:p.Lys2647Ile
XM_017009761.2:c.7940A>T XP_016865250.1:p.Lys2647Ile
XM_017009763.1:c.7136A>T XP_016865252.1:p.Lys2379Ile
XM_017009765.1:c.6941A>T XP_016865254.1:p.Lys2314Ile
XM_017009766.1:c.4772A>T XP_016865255.1:p.Lys1591Ile
XM_024446183.1:c.7940A>T XP_024301951.1:p.Lys2647Ile
XM_024446184.1:c.7811A>T XP_024301952.1:p.Lys2604Ile
XM_024446185.1:c.7457A>T XP_024301953.1:p.Lys2486Ile
XM_024446186.1:c.7136A>T XP_024301954.1:p.Lys2379Ile
XR_001742208.1:n.8298A>T
XR_002956171.1:n.8244A>T
XR_925644.2:n.8353A>T
NM_001384732.1:c.8129A>T MANE Select NP_001371661.1:p.Lys2710Ile
NM_023073.4:c.7967A>T NP_075561.3:p.Lys2656Ile