Canonical Allele Identifier: CA3238047

Gene: CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37165539C>T , CM000667.2:g.37165539C>T	GRCh38
NC_000005.9:g.37165641C>T , CM000667.1:g.37165641C>T	GRCh37
NC_000005.8:g.37201398C>T	NCBI36
NG_032772.1:g.88890G>A
NG_032772.2:g.88890G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001384732.1:c.7533G>A MANE Select	NP_001371661.1:p.Lys2511=
ENST00000651892.2:c.7533G>A MANE Select	ENSP00000498265.2:p.Lys2511=
NM_023073.3:c.7533G>A	NP_075561.3:p.Lys2511=
NM_023073.4:c.7533G>A	NP_075561.3:p.Lys2511=
ENST00000425232.6:c.7533G>A	ENSP00000389014.2:p.Lys2511=
ENST00000508244.5:c.7533G>A	ENSP00000421690.1:p.Lys2511=
ENST00000509849.5:c.4545G>A	ENSP00000426337.1:p.Lys1515=
ENST00000511824.2:c.605G>A
ENST00000514429.5:c.4677G>A	ENSP00000424223.1:p.Lys1559=
ENST00000675149.1:n.653G>A
XM_005248345.2:c.7533G>A	XP_005248402.1:p.Lys2511=
XM_005248345.4:c.7533G>A	XP_005248402.1:p.Lys2511=
XM_005248346.2:c.7530G>A	XP_005248403.1:p.Lys2510=
XM_005248346.4:c.7530G>A	XP_005248403.1:p.Lys2510=
XM_005248347.2:c.7530G>A	XP_005248404.1:p.Lys2510=
XM_005248347.4:c.7530G>A	XP_005248404.1:p.Lys2510=
XM_005248349.2:c.7530G>A	XP_005248406.1:p.Lys2510=
XM_005248349.4:c.7530G>A	XP_005248406.1:p.Lys2510=
XM_005248350.2:c.7404G>A	XP_005248407.1:p.Lys2468=
XM_005248350.4:c.7404G>A	XP_005248407.1:p.Lys2468=
XM_005248353.3:c.4176G>A	XP_005248410.1:p.Lys1392=
XM_006714489.2:c.7533G>A	XP_006714552.1:p.Lys2511=
XM_006714491.2:c.2106G>A	XP_006714554.1:p.Lys702=
XM_006714491.3:c.2106G>A	XP_006714554.1:p.Lys702=
XM_011514085.1:c.7533G>A	XP_011512387.1:p.Lys2511=
XM_011514085.3:c.7533G>A	XP_011512387.1:p.Lys2511=
XM_011514086.1:c.7533G>A	XP_011512388.1:p.Lys2511=
XM_011514086.3:c.7533G>A	XP_011512388.1:p.Lys2511=
XM_011514087.1:c.7533G>A	XP_011512389.1:p.Lys2511=
XM_011514087.2:c.7533G>A	XP_011512389.1:p.Lys2511=
XM_011514088.1:c.7533G>A	XP_011512390.1:p.Lys2511=
XM_011514088.2:c.7533G>A	XP_011512390.1:p.Lys2511=
XM_011514089.1:c.7533G>A	XP_011512391.1:p.Lys2511=
XM_011514089.2:c.7533G>A	XP_011512391.1:p.Lys2511=
XM_011514090.1:c.7215G>A	XP_011512392.1:p.Lys2405=
XM_011514090.3:c.7215G>A	XP_011512392.1:p.Lys2405=
XM_011514091.1:c.6861G>A	XP_011512393.1:p.Lys2287=
XM_011514092.1:c.7533G>A	XP_011512394.1:p.Lys2511=
XM_011514092.2:c.7533G>A	XP_011512394.1:p.Lys2511=
XM_011514093.1:c.7533G>A	XP_011512395.1:p.Lys2511=
XM_011514094.1:c.4758G>A	XP_011512396.1:p.Lys1586=
XM_011514094.2:c.4758G>A	XP_011512396.1:p.Lys1586=
XM_017009760.1:c.7344G>A	XP_016865249.1:p.Lys2448=
XM_017009761.2:c.7344G>A	XP_016865250.1:p.Lys2448=
XM_017009763.1:c.6540G>A	XP_016865252.1:p.Lys2180=
XM_017009765.1:c.6345G>A	XP_016865254.1:p.Lys2115=
XM_017009766.1:c.4176G>A	XP_016865255.1:p.Lys1392=
XM_024446183.1:c.7344G>A	XP_024301951.1:p.Lys2448=
XM_024446184.1:c.7215G>A	XP_024301952.1:p.Lys2405=
XM_024446185.1:c.6861G>A	XP_024301953.1:p.Lys2287=
XM_024446186.1:c.6540G>A	XP_024301954.1:p.Lys2180=
XR_001742208.1:n.7757G>A
XR_002956171.1:n.7757G>A
XR_427661.2:n.7708G>A
XR_925644.1:n.7708G>A
XR_925644.2:n.7757G>A