Canonical Allele Identifier: CA359498335

Gene: CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37125352G>T (hg19) ; chr5:g.37125250G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37125250G>T , CM000667.2:g.37125250G>T	GRCh38
NC_000005.9:g.37125352G>T , CM000667.1:g.37125352G>T	GRCh37
NC_000005.8:g.37161109G>T	NCBI36
NG_032772.1:g.129179C>A
NG_032772.2:g.129179C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000510830.2:n.1951C>A
ENST00000651892.2:c.8952C>A MANE Select	ENSP00000498265.2:p.Ser2984Arg
ENST00000676160.1:n.813C>A
ENST00000425232.6:c.8790C>A	ENSP00000389014.2:p.Ser2930Arg
ENST00000508244.5:c.8790C>A	ENSP00000421690.1:p.Ser2930Arg
ENST00000509849.5:c.5964C>A	ENSP00000426337.1:n.5964C>A
ENST00000509957.5:n.4133C>A
ENST00000512288.5:n.342-3466C>A
ENST00000514429.5:c.5988C>A	ENSP00000424223.1:p.Ser1996Arg
NM_023073.3:c.8790C>A	NP_075561.3:p.Ser2930Arg
XM_005248345.2:c.8952C>A	XP_005248402.1:p.Ser2984Arg
XM_005248346.2:c.8949C>A	XP_005248403.1:p.Ser2983Arg
XM_005248347.2:c.8949C>A	XP_005248404.1:p.Ser2983Arg
XM_005248349.2:c.8841C>A	XP_005248406.1:p.Ser2947Arg
XM_005248350.2:c.8823C>A	XP_005248407.1:p.Ser2941Arg
XM_005248353.3:c.5595C>A	XP_005248410.1:p.Ser1865Arg
XM_006714489.2:c.8952C>A	XP_006714552.1:p.Ser2984Arg
XM_006714491.2:c.3525C>A	XP_006714554.1:p.Ser1175Arg
XM_011514085.1:c.8952C>A	XP_011512387.1:p.Ser2984Arg
XM_011514086.1:c.8952C>A	XP_011512388.1:p.Ser2984Arg
XM_011514087.1:c.8898C>A	XP_011512389.1:p.Ser2966Arg
XM_011514088.1:c.8844C>A	XP_011512390.1:p.Ser2948Arg
XM_011514089.1:c.8952C>A	XP_011512391.1:p.Ser2984Arg
XM_011514090.1:c.8634C>A	XP_011512392.1:p.Ser2878Arg
XM_011514091.1:c.8280C>A	XP_011512393.1:p.Ser2760Arg
XM_011514092.1:c.8952C>A	XP_011512394.1:p.Ser2984Arg
XM_011514094.1:c.6177C>A	XP_011512396.1:p.Ser2059Arg
XR_427661.2:n.9127C>A
XR_925644.1:n.9127C>A
XM_005248345.4:c.8952C>A	XP_005248402.1:p.Ser2984Arg
XM_005248346.4:c.8949C>A	XP_005248403.1:p.Ser2983Arg
XM_005248347.4:c.8949C>A	XP_005248404.1:p.Ser2983Arg
XM_005248349.4:c.8841C>A	XP_005248406.1:p.Ser2947Arg
XM_005248350.4:c.8823C>A	XP_005248407.1:p.Ser2941Arg
XM_006714491.3:c.3525C>A	XP_006714554.1:p.Ser1175Arg
XM_011514085.3:c.8952C>A	XP_011512387.1:p.Ser2984Arg
XM_011514086.3:c.8952C>A	XP_011512388.1:p.Ser2984Arg
XM_011514087.2:c.8898C>A	XP_011512389.1:p.Ser2966Arg
XM_011514088.2:c.8844C>A	XP_011512390.1:p.Ser2948Arg
XM_011514089.2:c.8952C>A	XP_011512391.1:p.Ser2984Arg
XM_011514090.3:c.8634C>A	XP_011512392.1:p.Ser2878Arg
XM_011514092.2:c.8952C>A	XP_011512394.1:p.Ser2984Arg
XM_011514094.2:c.6177C>A	XP_011512396.1:p.Ser2059Arg
XM_017009760.1:c.8763C>A	XP_016865249.1:p.Ser2921Arg
XM_017009761.2:c.8763C>A	XP_016865250.1:p.Ser2921Arg
XM_017009763.1:c.7959C>A	XP_016865252.1:p.Ser2653Arg
XM_017009765.1:c.7764C>A	XP_016865254.1:p.Ser2588Arg
XM_017009766.1:c.5595C>A	XP_016865255.1:p.Ser1865Arg
XM_024446183.1:c.8763C>A	XP_024301951.1:p.Ser2921Arg
XM_024446184.1:c.8634C>A	XP_024301952.1:p.Ser2878Arg
XM_024446185.1:c.8280C>A	XP_024301953.1:p.Ser2760Arg
XM_024446186.1:c.7959C>A	XP_024301954.1:p.Ser2653Arg
XR_925644.2:n.9176C>A
NM_001384732.1:c.8952C>A MANE Select	NP_001371661.1:p.Ser2984Arg
NM_023073.4:c.8790C>A	NP_075561.3:p.Ser2930Arg