Canonical Allele Identifier: CA359474389

Gene: CPLANE1

Linked Data

• ClinVar Variation Id: 2051424
• ClinVar RCV Id: RCV002927243
• MyVariant Identifiers: chr5:g.37154078A>T (hg19) ; chr5:g.37153976A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153976A>T , CM000667.2:g.37153976A>T	GRCh38
NC_000005.9:g.37154078A>T , CM000667.1:g.37154078A>T	GRCh37
NC_000005.8:g.37189835A>T	NCBI36
NG_032772.1:g.100453T>A
NG_032772.2:g.100453T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1136T>A
ENST00000651892.2:c.8137T>A MANE Select	ENSP00000498265.2:p.Phe2713Ile
ENST00000425232.6:c.7975T>A	ENSP00000389014.2:p.Phe2659Ile
ENST00000508244.5:c.7975T>A	ENSP00000421690.1:p.Phe2659Ile
ENST00000509849.5:c.5149T>A	ENSP00000426337.1:p.Phe1717Ile
ENST00000509957.5:n.379T>A
ENST00000511210.5:n.428T>A
ENST00000511824.2:c.1251T>A
ENST00000514429.5:c.5173T>A	ENSP00000424223.1:p.Phe1725Ile
ENST00000515380.1:n.389T>A
NM_023073.3:c.7975T>A	NP_075561.3:p.Phe2659Ile
XM_005248345.2:c.8137T>A	XP_005248402.1:p.Phe2713Ile
XM_005248346.2:c.8134T>A	XP_005248403.1:p.Phe2712Ile
XM_005248347.2:c.8134T>A	XP_005248404.1:p.Phe2712Ile
XM_005248349.2:c.8026T>A	XP_005248406.1:p.Phe2676Ile
XM_005248350.2:c.8008T>A	XP_005248407.1:p.Phe2670Ile
XM_005248353.3:c.4780T>A	XP_005248410.1:p.Phe1594Ile
XM_006714489.2:c.8137T>A	XP_006714552.1:p.Phe2713Ile
XM_006714491.2:c.2710T>A	XP_006714554.1:p.Phe904Ile
XM_011514085.1:c.8137T>A	XP_011512387.1:p.Phe2713Ile
XM_011514086.1:c.8137T>A	XP_011512388.1:p.Phe2713Ile
XM_011514087.1:c.8083T>A	XP_011512389.1:p.Phe2695Ile
XM_011514088.1:c.8029T>A	XP_011512390.1:p.Phe2677Ile
XM_011514089.1:c.8137T>A	XP_011512391.1:p.Phe2713Ile
XM_011514090.1:c.7819T>A	XP_011512392.1:p.Phe2607Ile
XM_011514091.1:c.7465T>A	XP_011512393.1:p.Phe2489Ile
XM_011514092.1:c.8137T>A	XP_011512394.1:p.Phe2713Ile
XM_011514094.1:c.5362T>A	XP_011512396.1:p.Phe1788Ile
XR_427661.2:n.8312T>A
XR_925644.1:n.8312T>A
XM_005248345.4:c.8137T>A	XP_005248402.1:p.Phe2713Ile
XM_005248346.4:c.8134T>A	XP_005248403.1:p.Phe2712Ile
XM_005248347.4:c.8134T>A	XP_005248404.1:p.Phe2712Ile
XM_005248349.4:c.8026T>A	XP_005248406.1:p.Phe2676Ile
XM_005248350.4:c.8008T>A	XP_005248407.1:p.Phe2670Ile
XM_006714491.3:c.2710T>A	XP_006714554.1:p.Phe904Ile
XM_011514085.3:c.8137T>A	XP_011512387.1:p.Phe2713Ile
XM_011514086.3:c.8137T>A	XP_011512388.1:p.Phe2713Ile
XM_011514087.2:c.8083T>A	XP_011512389.1:p.Phe2695Ile
XM_011514088.2:c.8029T>A	XP_011512390.1:p.Phe2677Ile
XM_011514089.2:c.8137T>A	XP_011512391.1:p.Phe2713Ile
XM_011514090.3:c.7819T>A	XP_011512392.1:p.Phe2607Ile
XM_011514092.2:c.8137T>A	XP_011512394.1:p.Phe2713Ile
XM_011514094.2:c.5362T>A	XP_011512396.1:p.Phe1788Ile
XM_017009760.1:c.7948T>A	XP_016865249.1:p.Phe2650Ile
XM_017009761.2:c.7948T>A	XP_016865250.1:p.Phe2650Ile
XM_017009763.1:c.7144T>A	XP_016865252.1:p.Phe2382Ile
XM_017009765.1:c.6949T>A	XP_016865254.1:p.Phe2317Ile
XM_017009766.1:c.4780T>A	XP_016865255.1:p.Phe1594Ile
XM_024446183.1:c.7948T>A	XP_024301951.1:p.Phe2650Ile
XM_024446184.1:c.7819T>A	XP_024301952.1:p.Phe2607Ile
XM_024446185.1:c.7465T>A	XP_024301953.1:p.Phe2489Ile
XM_024446186.1:c.7144T>A	XP_024301954.1:p.Phe2382Ile
XR_001742208.1:n.8306T>A
XR_002956171.1:n.8252T>A
XR_925644.2:n.8361T>A
NM_001384732.1:c.8137T>A MANE Select	NP_001371661.1:p.Phe2713Ile
NM_023073.4:c.7975T>A	NP_075561.3:p.Phe2659Ile