Canonical Allele Identifier: CA3238663

Gene: CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37183547C>T , CM000667.2:g.37183547C>T	GRCh38
NC_000005.9:g.37183649C>T , CM000667.1:g.37183649C>T	GRCh37
NC_000005.8:g.37219406C>T	NCBI36
NG_032772.1:g.70882G>A
NG_032772.2:g.70882G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001384732.1:c.4634G>A MANE Select	NP_001371661.1:p.Arg1545His
ENST00000651892.2:c.4634G>A MANE Select	ENSP00000498265.2:p.Arg1545His
NM_023073.3:c.4634G>A	NP_075561.3:p.Arg1545His
NM_023073.4:c.4634G>A	NP_075561.3:p.Arg1545His
ENST00000425232.6:c.4634G>A	ENSP00000389014.2:p.Arg1545His
ENST00000425232.7:c.4138G>A
ENST00000508244.5:c.4634G>A	ENSP00000421690.1:p.Arg1545His
ENST00000509849.5:c.1649G>A	ENSP00000426337.1:p.Arg550His
ENST00000514429.5:c.1778G>A	ENSP00000424223.1:p.Arg593His
XM_005248345.2:c.4634G>A	XP_005248402.1:p.Arg1545His
XM_005248345.4:c.4634G>A	XP_005248402.1:p.Arg1545His
XM_005248346.2:c.4634G>A	XP_005248403.1:p.Arg1545His
XM_005248346.4:c.4634G>A	XP_005248403.1:p.Arg1545His
XM_005248347.2:c.4634G>A	XP_005248404.1:p.Arg1545His
XM_005248347.4:c.4634G>A	XP_005248404.1:p.Arg1545His
XM_005248349.2:c.4634G>A	XP_005248406.1:p.Arg1545His
XM_005248349.4:c.4634G>A	XP_005248406.1:p.Arg1545His
XM_005248350.2:c.4505G>A	XP_005248407.1:p.Arg1502His
XM_005248350.4:c.4505G>A	XP_005248407.1:p.Arg1502His
XM_005248353.3:c.1277G>A	XP_005248410.1:p.Arg426His
XM_006714489.2:c.4634G>A	XP_006714552.1:p.Arg1545His
XM_011514085.1:c.4634G>A	XP_011512387.1:p.Arg1545His
XM_011514085.3:c.4634G>A	XP_011512387.1:p.Arg1545His
XM_011514086.1:c.4634G>A	XP_011512388.1:p.Arg1545His
XM_011514086.3:c.4634G>A	XP_011512388.1:p.Arg1545His
XM_011514087.1:c.4634G>A	XP_011512389.1:p.Arg1545His
XM_011514087.2:c.4634G>A	XP_011512389.1:p.Arg1545His
XM_011514088.1:c.4634G>A	XP_011512390.1:p.Arg1545His
XM_011514088.2:c.4634G>A	XP_011512390.1:p.Arg1545His
XM_011514089.1:c.4634G>A	XP_011512391.1:p.Arg1545His
XM_011514089.2:c.4634G>A	XP_011512391.1:p.Arg1545His
XM_011514090.1:c.4316G>A	XP_011512392.1:p.Arg1439His
XM_011514090.3:c.4316G>A	XP_011512392.1:p.Arg1439His
XM_011514091.1:c.3962G>A	XP_011512393.1:p.Arg1321His
XM_011514092.1:c.4634G>A	XP_011512394.1:p.Arg1545His
XM_011514092.2:c.4634G>A	XP_011512394.1:p.Arg1545His
XM_011514093.1:c.4634G>A	XP_011512395.1:p.Arg1545His
XM_011514094.1:c.1859G>A	XP_011512396.1:p.Arg620His
XM_011514094.2:c.1859G>A	XP_011512396.1:p.Arg620His
XM_017009760.1:c.4445G>A	XP_016865249.1:p.Arg1482His
XM_017009761.2:c.4445G>A	XP_016865250.1:p.Arg1482His
XM_017009763.1:c.3641G>A	XP_016865252.1:p.Arg1214His
XM_017009765.1:c.3446G>A	XP_016865254.1:p.Arg1149His
XM_017009766.1:c.1277G>A	XP_016865255.1:p.Arg426His
XM_024446183.1:c.4445G>A	XP_024301951.1:p.Arg1482His
XM_024446184.1:c.4316G>A	XP_024301952.1:p.Arg1439His
XM_024446185.1:c.3962G>A	XP_024301953.1:p.Arg1321His
XM_024446186.1:c.3641G>A	XP_024301954.1:p.Arg1214His
XR_001742208.1:n.4858G>A
XR_002956171.1:n.4858G>A
XR_427661.2:n.4809G>A
XR_925644.1:n.4809G>A
XR_925644.2:n.4858G>A