Canonical Allele Identifier: CA277794

Gene: CPLANE1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37148223dup , CM000667.2:g.37148223dup	GRCh38
NC_000005.9:g.37148325dup , CM000667.1:g.37148325dup	GRCh37
NC_000005.8:g.37184082dup	NCBI36
NG_032772.1:g.106212dup
NG_032772.2:g.106212dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1424dup
ENST00000651892.2:c.8425dup MANE Select	ENSP00000498265.2:p.Thr2809AsnfsTer8
ENST00000425232.6:c.8263dup	ENSP00000389014.2:p.Thr2755AsnfsTer8
ENST00000508244.5:c.8263dup	ENSP00000421690.1:p.Thr2755AsnfsTer8
ENST00000508405.1:n.157dup
ENST00000509849.5:c.5437dup	ENSP00000426337.1:p.Thr1813AsnfsTer8
ENST00000509957.5:n.667dup
ENST00000514429.5:c.5461dup	ENSP00000424223.1:p.Thr1821AsnfsTer8
NM_023073.3:c.8263dup	NP_075561.3:p.Thr2755AsnfsTer8
XM_005248345.2:c.8425dup	XP_005248402.1:p.Thr2809AsnfsTer8
XM_005248346.2:c.8422dup	XP_005248403.1:p.Thr2808AsnfsTer8
XM_005248347.2:c.8422dup	XP_005248404.1:p.Thr2808AsnfsTer8
XM_005248349.2:c.8314dup	XP_005248406.1:p.Thr2772AsnfsTer8
XM_005248350.2:c.8296dup	XP_005248407.1:p.Thr2766AsnfsTer8
XM_005248353.3:c.5068dup	XP_005248410.1:p.Thr1690AsnfsTer8
XM_006714489.2:c.8425dup	XP_006714552.1:p.Thr2809AsnfsTer8
XM_006714491.2:c.2998dup	XP_006714554.1:p.Thr1000AsnfsTer8
XM_011514085.1:c.8425dup	XP_011512387.1:p.Thr2809AsnfsTer8
XM_011514086.1:c.8425dup	XP_011512388.1:p.Thr2809AsnfsTer8
XM_011514087.1:c.8371dup	XP_011512389.1:p.Thr2791AsnfsTer8
XM_011514088.1:c.8317dup	XP_011512390.1:p.Thr2773AsnfsTer8
XM_011514089.1:c.8425dup	XP_011512391.1:p.Thr2809AsnfsTer8
XM_011514090.1:c.8107dup	XP_011512392.1:p.Thr2703AsnfsTer8
XM_011514091.1:c.7753dup	XP_011512393.1:p.Thr2585AsnfsTer8
XM_011514092.1:c.8425dup	XP_011512394.1:p.Thr2809AsnfsTer8
XM_011514094.1:c.5650dup	XP_011512396.1:p.Thr1884AsnfsTer8
XR_427661.2:n.8600dup
XR_925644.1:n.8600dup
XM_005248345.4:c.8425dup	XP_005248402.1:p.Thr2809AsnfsTer8
XM_005248346.4:c.8422dup	XP_005248403.1:p.Thr2808AsnfsTer8
XM_005248347.4:c.8422dup	XP_005248404.1:p.Thr2808AsnfsTer8
XM_005248349.4:c.8314dup	XP_005248406.1:p.Thr2772AsnfsTer8
XM_005248350.4:c.8296dup	XP_005248407.1:p.Thr2766AsnfsTer8
XM_006714491.3:c.2998dup	XP_006714554.1:p.Thr1000AsnfsTer8
XM_011514085.3:c.8425dup	XP_011512387.1:p.Thr2809AsnfsTer8
XM_011514086.3:c.8425dup	XP_011512388.1:p.Thr2809AsnfsTer8
XM_011514087.2:c.8371dup	XP_011512389.1:p.Thr2791AsnfsTer8
XM_011514088.2:c.8317dup	XP_011512390.1:p.Thr2773AsnfsTer8
XM_011514089.2:c.8425dup	XP_011512391.1:p.Thr2809AsnfsTer8
XM_011514090.3:c.8107dup	XP_011512392.1:p.Thr2703AsnfsTer8
XM_011514092.2:c.8425dup	XP_011512394.1:p.Thr2809AsnfsTer8
XM_011514094.2:c.5650dup	XP_011512396.1:p.Thr1884AsnfsTer8
XM_017009760.1:c.8236dup	XP_016865249.1:p.Thr2746AsnfsTer8
XM_017009761.2:c.8236dup	XP_016865250.1:p.Thr2746AsnfsTer8
XM_017009763.1:c.7432dup	XP_016865252.1:p.Thr2478AsnfsTer8
XM_017009765.1:c.7237dup	XP_016865254.1:p.Thr2413AsnfsTer8
XM_017009766.1:c.5068dup	XP_016865255.1:p.Thr1690AsnfsTer8
XM_024446183.1:c.8236dup	XP_024301951.1:p.Thr2746AsnfsTer8
XM_024446184.1:c.8107dup	XP_024301952.1:p.Thr2703AsnfsTer8
XM_024446185.1:c.7753dup	XP_024301953.1:p.Thr2585AsnfsTer8
XM_024446186.1:c.7432dup	XP_024301954.1:p.Thr2478AsnfsTer8
XR_001742208.1:n.8594dup
XR_002956171.1:n.8540dup
XR_925644.2:n.8649dup
NM_001384732.1:c.8425dup MANE Select	NP_001371661.1:p.Thr2809AsnfsTer8
NM_023073.4:c.8263dup	NP_075561.3:p.Thr2755AsnfsTer8