Canonical Allele Identifier: CA1539651489

Gene: CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153991G= , CM000667.2:g.37153991G=	GRCh38
NC_000005.9:g.37154093G= , CM000667.1:g.37154093G=	GRCh37
NC_000005.8:g.37189850G=	NCBI36
NG_032772.1:g.100438C=
NG_032772.2:g.100438C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1121C=
ENST00000651892.2:c.8122C= MANE Select	ENSP00000498265.2:p.Leu2708=
ENST00000425232.6:c.7960C=	ENSP00000389014.2:p.Leu2654=
ENST00000508244.5:c.7960C=	ENSP00000421690.1:p.Leu2654=
ENST00000509849.5:c.5134C=	ENSP00000426337.1:p.Leu1712=
ENST00000509957.5:n.364C=
ENST00000511210.5:n.413C=
ENST00000511824.2:c.1236C=
ENST00000514429.5:c.5158C=	ENSP00000424223.1:p.Leu1720=
ENST00000515380.1:n.374C=
NM_023073.3:c.7960C=	NP_075561.3:p.Leu2654=
XM_005248345.2:c.8122C=	XP_005248402.1:p.Leu2708=
XM_005248346.2:c.8119C=	XP_005248403.1:p.Leu2707=
XM_005248347.2:c.8119C=	XP_005248404.1:p.Leu2707=
XM_005248349.2:c.8011C=	XP_005248406.1:p.Leu2671=
XM_005248350.2:c.7993C=	XP_005248407.1:p.Leu2665=
XM_005248353.3:c.4765C=	XP_005248410.1:p.Leu1589=
XM_006714489.2:c.8122C=	XP_006714552.1:p.Leu2708=
XM_006714491.2:c.2695C=	XP_006714554.1:p.Leu899=
XM_011514085.1:c.8122C=	XP_011512387.1:p.Leu2708=
XM_011514086.1:c.8122C=	XP_011512388.1:p.Leu2708=
XM_011514087.1:c.8068C=	XP_011512389.1:p.Leu2690=
XM_011514088.1:c.8014C=	XP_011512390.1:p.Leu2672=
XM_011514089.1:c.8122C=	XP_011512391.1:p.Leu2708=
XM_011514090.1:c.7804C=	XP_011512392.1:p.Leu2602=
XM_011514091.1:c.7450C=	XP_011512393.1:p.Leu2484=
XM_011514092.1:c.8122C=	XP_011512394.1:p.Leu2708=
XM_011514094.1:c.5347C=	XP_011512396.1:p.Leu1783=
XR_427661.2:n.8297C=
XR_925644.1:n.8297C=
XM_005248345.4:c.8122C=	XP_005248402.1:p.Leu2708=
XM_005248346.4:c.8119C=	XP_005248403.1:p.Leu2707=
XM_005248347.4:c.8119C=	XP_005248404.1:p.Leu2707=
XM_005248349.4:c.8011C=	XP_005248406.1:p.Leu2671=
XM_005248350.4:c.7993C=	XP_005248407.1:p.Leu2665=
XM_006714491.3:c.2695C=	XP_006714554.1:p.Leu899=
XM_011514085.3:c.8122C=	XP_011512387.1:p.Leu2708=
XM_011514086.3:c.8122C=	XP_011512388.1:p.Leu2708=
XM_011514087.2:c.8068C=	XP_011512389.1:p.Leu2690=
XM_011514088.2:c.8014C=	XP_011512390.1:p.Leu2672=
XM_011514089.2:c.8122C=	XP_011512391.1:p.Leu2708=
XM_011514090.3:c.7804C=	XP_011512392.1:p.Leu2602=
XM_011514092.2:c.8122C=	XP_011512394.1:p.Leu2708=
XM_011514094.2:c.5347C=	XP_011512396.1:p.Leu1783=
XM_017009760.1:c.7933C=	XP_016865249.1:p.Leu2645=
XM_017009761.2:c.7933C=	XP_016865250.1:p.Leu2645=
XM_017009763.1:c.7129C=	XP_016865252.1:p.Leu2377=
XM_017009765.1:c.6934C=	XP_016865254.1:p.Leu2312=
XM_017009766.1:c.4765C=	XP_016865255.1:p.Leu1589=
XM_024446183.1:c.7933C=	XP_024301951.1:p.Leu2645=
XM_024446184.1:c.7804C=	XP_024301952.1:p.Leu2602=
XM_024446185.1:c.7450C=	XP_024301953.1:p.Leu2484=
XM_024446186.1:c.7129C=	XP_024301954.1:p.Leu2377=
XR_001742208.1:n.8291C=
XR_002956171.1:n.8237C=
XR_925644.2:n.8346C=
NM_001384732.1:c.8122C= MANE Select	NP_001371661.1:p.Leu2708=
NM_023073.4:c.7960C=	NP_075561.3:p.Leu2654=