Canonical Allele Identifier: CA359473794

Gene: CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37153915G>T (hg19) ; chr5:g.37153813G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153813G>T , CM000667.2:g.37153813G>T	GRCh38
NC_000005.9:g.37153915G>T , CM000667.1:g.37153915G>T	GRCh37
NC_000005.8:g.37189672G>T	NCBI36
NG_032772.1:g.100616C>A
NG_032772.2:g.100616C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1299C>A
ENST00000651892.2:c.8300C>A MANE Select	ENSP00000498265.2:p.Ala2767Glu
ENST00000425232.6:c.8138C>A	ENSP00000389014.2:p.Ala2713Glu
ENST00000508244.5:c.8138C>A	ENSP00000421690.1:p.Ala2713Glu
ENST00000508405.1:n.32C>A
ENST00000509849.5:c.5312C>A	ENSP00000426337.1:p.Ala1771Glu
ENST00000509957.5:n.542C>A
ENST00000511824.2:c.1414C>A
ENST00000514429.5:c.5336C>A	ENSP00000424223.1:p.Ala1779Glu
NM_023073.3:c.8138C>A	NP_075561.3:p.Ala2713Glu
XM_005248345.2:c.8300C>A	XP_005248402.1:p.Ala2767Glu
XM_005248346.2:c.8297C>A	XP_005248403.1:p.Ala2766Glu
XM_005248347.2:c.8297C>A	XP_005248404.1:p.Ala2766Glu
XM_005248349.2:c.8189C>A	XP_005248406.1:p.Ala2730Glu
XM_005248350.2:c.8171C>A	XP_005248407.1:p.Ala2724Glu
XM_005248353.3:c.4943C>A	XP_005248410.1:p.Ala1648Glu
XM_006714489.2:c.8300C>A	XP_006714552.1:p.Ala2767Glu
XM_006714491.2:c.2873C>A	XP_006714554.1:p.Ala958Glu
XM_011514085.1:c.8300C>A	XP_011512387.1:p.Ala2767Glu
XM_011514086.1:c.8300C>A	XP_011512388.1:p.Ala2767Glu
XM_011514087.1:c.8246C>A	XP_011512389.1:p.Ala2749Glu
XM_011514088.1:c.8192C>A	XP_011512390.1:p.Ala2731Glu
XM_011514089.1:c.8300C>A	XP_011512391.1:p.Ala2767Glu
XM_011514090.1:c.7982C>A	XP_011512392.1:p.Ala2661Glu
XM_011514091.1:c.7628C>A	XP_011512393.1:p.Ala2543Glu
XM_011514092.1:c.8300C>A	XP_011512394.1:p.Ala2767Glu
XM_011514094.1:c.5525C>A	XP_011512396.1:p.Ala1842Glu
XR_427661.2:n.8475C>A
XR_925644.1:n.8475C>A
XM_005248345.4:c.8300C>A	XP_005248402.1:p.Ala2767Glu
XM_005248346.4:c.8297C>A	XP_005248403.1:p.Ala2766Glu
XM_005248347.4:c.8297C>A	XP_005248404.1:p.Ala2766Glu
XM_005248349.4:c.8189C>A	XP_005248406.1:p.Ala2730Glu
XM_005248350.4:c.8171C>A	XP_005248407.1:p.Ala2724Glu
XM_006714491.3:c.2873C>A	XP_006714554.1:p.Ala958Glu
XM_011514085.3:c.8300C>A	XP_011512387.1:p.Ala2767Glu
XM_011514086.3:c.8300C>A	XP_011512388.1:p.Ala2767Glu
XM_011514087.2:c.8246C>A	XP_011512389.1:p.Ala2749Glu
XM_011514088.2:c.8192C>A	XP_011512390.1:p.Ala2731Glu
XM_011514089.2:c.8300C>A	XP_011512391.1:p.Ala2767Glu
XM_011514090.3:c.7982C>A	XP_011512392.1:p.Ala2661Glu
XM_011514092.2:c.8300C>A	XP_011512394.1:p.Ala2767Glu
XM_011514094.2:c.5525C>A	XP_011512396.1:p.Ala1842Glu
XM_017009760.1:c.8111C>A	XP_016865249.1:p.Ala2704Glu
XM_017009761.2:c.8111C>A	XP_016865250.1:p.Ala2704Glu
XM_017009763.1:c.7307C>A	XP_016865252.1:p.Ala2436Glu
XM_017009765.1:c.7112C>A	XP_016865254.1:p.Ala2371Glu
XM_017009766.1:c.4943C>A	XP_016865255.1:p.Ala1648Glu
XM_024446183.1:c.8111C>A	XP_024301951.1:p.Ala2704Glu
XM_024446184.1:c.7982C>A	XP_024301952.1:p.Ala2661Glu
XM_024446185.1:c.7628C>A	XP_024301953.1:p.Ala2543Glu
XM_024446186.1:c.7307C>A	XP_024301954.1:p.Ala2436Glu
XR_001742208.1:n.8469C>A
XR_002956171.1:n.8415C>A
XR_925644.2:n.8524C>A
NM_001384732.1:c.8300C>A MANE Select	NP_001371661.1:p.Ala2767Glu
NM_023073.4:c.8138C>A	NP_075561.3:p.Ala2713Glu