Canonical Allele Identifier: CA3237851

Gene: CPLANE1

Linked Data

• dbSNP Id: rs759855888
• ExAC: 5:37154062 T / A
• MyVariant Identifiers: chr5:g.37154062T>A (hg19) ; chr5:g.37153960T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153960T>A , CM000667.2:g.37153960T>A	GRCh38
NC_000005.9:g.37154062T>A , CM000667.1:g.37154062T>A	GRCh37
NC_000005.8:g.37189819T>A	NCBI36
NG_032772.1:g.100469A>T
NG_032772.2:g.100469A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1152A>T
ENST00000651892.2:c.8153A>T MANE Select	ENSP00000498265.2:p.Gln2718Leu
ENST00000425232.6:c.7991A>T	ENSP00000389014.2:p.Gln2664Leu
ENST00000508244.5:c.7991A>T	ENSP00000421690.1:p.Gln2664Leu
ENST00000509849.5:c.5165A>T	ENSP00000426337.1:p.Gln1722Leu
ENST00000509957.5:n.395A>T
ENST00000511210.5:n.444A>T
ENST00000511824.2:c.1267A>T
ENST00000514429.5:c.5189A>T	ENSP00000424223.1:p.Gln1730Leu
ENST00000515380.1:n.405A>T
NM_023073.3:c.7991A>T	NP_075561.3:p.Gln2664Leu
XM_005248345.2:c.8153A>T	XP_005248402.1:p.Gln2718Leu
XM_005248346.2:c.8150A>T	XP_005248403.1:p.Gln2717Leu
XM_005248347.2:c.8150A>T	XP_005248404.1:p.Gln2717Leu
XM_005248349.2:c.8042A>T	XP_005248406.1:p.Gln2681Leu
XM_005248350.2:c.8024A>T	XP_005248407.1:p.Gln2675Leu
XM_005248353.3:c.4796A>T	XP_005248410.1:p.Gln1599Leu
XM_006714489.2:c.8153A>T	XP_006714552.1:p.Gln2718Leu
XM_006714491.2:c.2726A>T	XP_006714554.1:p.Gln909Leu
XM_011514085.1:c.8153A>T	XP_011512387.1:p.Gln2718Leu
XM_011514086.1:c.8153A>T	XP_011512388.1:p.Gln2718Leu
XM_011514087.1:c.8099A>T	XP_011512389.1:p.Gln2700Leu
XM_011514088.1:c.8045A>T	XP_011512390.1:p.Gln2682Leu
XM_011514089.1:c.8153A>T	XP_011512391.1:p.Gln2718Leu
XM_011514090.1:c.7835A>T	XP_011512392.1:p.Gln2612Leu
XM_011514091.1:c.7481A>T	XP_011512393.1:p.Gln2494Leu
XM_011514092.1:c.8153A>T	XP_011512394.1:p.Gln2718Leu
XM_011514094.1:c.5378A>T	XP_011512396.1:p.Gln1793Leu
XR_427661.2:n.8328A>T
XR_925644.1:n.8328A>T
XM_005248345.4:c.8153A>T	XP_005248402.1:p.Gln2718Leu
XM_005248346.4:c.8150A>T	XP_005248403.1:p.Gln2717Leu
XM_005248347.4:c.8150A>T	XP_005248404.1:p.Gln2717Leu
XM_005248349.4:c.8042A>T	XP_005248406.1:p.Gln2681Leu
XM_005248350.4:c.8024A>T	XP_005248407.1:p.Gln2675Leu
XM_006714491.3:c.2726A>T	XP_006714554.1:p.Gln909Leu
XM_011514085.3:c.8153A>T	XP_011512387.1:p.Gln2718Leu
XM_011514086.3:c.8153A>T	XP_011512388.1:p.Gln2718Leu
XM_011514087.2:c.8099A>T	XP_011512389.1:p.Gln2700Leu
XM_011514088.2:c.8045A>T	XP_011512390.1:p.Gln2682Leu
XM_011514089.2:c.8153A>T	XP_011512391.1:p.Gln2718Leu
XM_011514090.3:c.7835A>T	XP_011512392.1:p.Gln2612Leu
XM_011514092.2:c.8153A>T	XP_011512394.1:p.Gln2718Leu
XM_011514094.2:c.5378A>T	XP_011512396.1:p.Gln1793Leu
XM_017009760.1:c.7964A>T	XP_016865249.1:p.Gln2655Leu
XM_017009761.2:c.7964A>T	XP_016865250.1:p.Gln2655Leu
XM_017009763.1:c.7160A>T	XP_016865252.1:p.Gln2387Leu
XM_017009765.1:c.6965A>T	XP_016865254.1:p.Gln2322Leu
XM_017009766.1:c.4796A>T	XP_016865255.1:p.Gln1599Leu
XM_024446183.1:c.7964A>T	XP_024301951.1:p.Gln2655Leu
XM_024446184.1:c.7835A>T	XP_024301952.1:p.Gln2612Leu
XM_024446185.1:c.7481A>T	XP_024301953.1:p.Gln2494Leu
XM_024446186.1:c.7160A>T	XP_024301954.1:p.Gln2387Leu
XR_001742208.1:n.8322A>T
XR_002956171.1:n.8268A>T
XR_925644.2:n.8377A>T
NM_001384732.1:c.8153A>T MANE Select	NP_001371661.1:p.Gln2718Leu
NM_023073.4:c.7991A>T	NP_075561.3:p.Gln2664Leu