Canonical Allele Identifier: CA3238948

Gene: CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37201670C>T , CM000667.2:g.37201670C>T	GRCh38
NC_000005.9:g.37201772C>T , CM000667.1:g.37201772C>T	GRCh37
NC_000005.8:g.37237529C>T	NCBI36
NG_032772.1:g.52759G>A
NG_032772.2:g.52759G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001384732.1:c.3428G>A MANE Select	NP_001371661.1:p.Arg1143Lys
ENST00000651892.2:c.3428G>A MANE Select	ENSP00000498265.2:p.Arg1143Lys
NM_023073.3:c.3428G>A	NP_075561.3:p.Arg1143Lys
NM_023073.4:c.3428G>A	NP_075561.3:p.Arg1143Lys
ENST00000425232.6:c.3428G>A	ENSP00000389014.2:p.Arg1143Lys
ENST00000425232.7:c.2932G>A
ENST00000508244.5:c.3428G>A	ENSP00000421690.1:p.Arg1143Lys
ENST00000509849.5:c.443G>A	ENSP00000426337.1:p.Arg148Lys
ENST00000514429.5:c.572G>A	ENSP00000424223.1:p.Arg191Lys
ENST00000676290.1:n.3503G>A
XM_005248345.2:c.3428G>A	XP_005248402.1:p.Arg1143Lys
XM_005248345.4:c.3428G>A	XP_005248402.1:p.Arg1143Lys
XM_005248346.2:c.3428G>A	XP_005248403.1:p.Arg1143Lys
XM_005248346.4:c.3428G>A	XP_005248403.1:p.Arg1143Lys
XM_005248347.2:c.3428G>A	XP_005248404.1:p.Arg1143Lys
XM_005248347.4:c.3428G>A	XP_005248404.1:p.Arg1143Lys
XM_005248349.2:c.3428G>A	XP_005248406.1:p.Arg1143Lys
XM_005248349.4:c.3428G>A	XP_005248406.1:p.Arg1143Lys
XM_005248350.2:c.3299G>A	XP_005248407.1:p.Arg1100Lys
XM_005248350.4:c.3299G>A	XP_005248407.1:p.Arg1100Lys
XM_005248353.3:c.71G>A	XP_005248410.1:p.Arg24Lys
XM_006714489.2:c.3428G>A	XP_006714552.1:p.Arg1143Lys
XM_011514085.1:c.3428G>A	XP_011512387.1:p.Arg1143Lys
XM_011514085.3:c.3428G>A	XP_011512387.1:p.Arg1143Lys
XM_011514086.1:c.3428G>A	XP_011512388.1:p.Arg1143Lys
XM_011514086.3:c.3428G>A	XP_011512388.1:p.Arg1143Lys
XM_011514087.1:c.3428G>A	XP_011512389.1:p.Arg1143Lys
XM_011514087.2:c.3428G>A	XP_011512389.1:p.Arg1143Lys
XM_011514088.1:c.3428G>A	XP_011512390.1:p.Arg1143Lys
XM_011514088.2:c.3428G>A	XP_011512390.1:p.Arg1143Lys
XM_011514089.1:c.3428G>A	XP_011512391.1:p.Arg1143Lys
XM_011514089.2:c.3428G>A	XP_011512391.1:p.Arg1143Lys
XM_011514090.1:c.3110G>A	XP_011512392.1:p.Arg1037Lys
XM_011514090.3:c.3110G>A	XP_011512392.1:p.Arg1037Lys
XM_011514091.1:c.2756G>A	XP_011512393.1:p.Arg919Lys
XM_011514092.1:c.3428G>A	XP_011512394.1:p.Arg1143Lys
XM_011514092.2:c.3428G>A	XP_011512394.1:p.Arg1143Lys
XM_011514093.1:c.3428G>A	XP_011512395.1:p.Arg1143Lys
XM_011514094.1:c.653G>A	XP_011512396.1:p.Arg218Lys
XM_011514094.2:c.653G>A	XP_011512396.1:p.Arg218Lys
XM_017009760.1:c.3239G>A	XP_016865249.1:p.Arg1080Lys
XM_017009761.2:c.3239G>A	XP_016865250.1:p.Arg1080Lys
XM_017009763.1:c.2435G>A	XP_016865252.1:p.Arg812Lys
XM_017009765.1:c.2240G>A	XP_016865254.1:p.Arg747Lys
XM_017009766.1:c.71G>A	XP_016865255.1:p.Arg24Lys
XM_024446183.1:c.3239G>A	XP_024301951.1:p.Arg1080Lys
XM_024446184.1:c.3110G>A	XP_024301952.1:p.Arg1037Lys
XM_024446185.1:c.2756G>A	XP_024301953.1:p.Arg919Lys
XM_024446186.1:c.2435G>A	XP_024301954.1:p.Arg812Lys
XR_001742208.1:n.3652G>A
XR_002956171.1:n.3652G>A
XR_427661.2:n.3603G>A
XR_925644.1:n.3603G>A
XR_925644.2:n.3652G>A