Canonical Allele Identifier: CA2673584432

Gene: CPLANE1

Linked Data

• gnomAD v4: 5-37157386-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37157386C>A , CM000667.2:g.37157386C>A	GRCh38
NC_000005.9:g.37157488C>A , CM000667.1:g.37157488C>A	GRCh37
NC_000005.8:g.37193245C>A	NCBI36
NG_032772.1:g.97043G>T
NG_032772.2:g.97043G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1045G>T
ENST00000651892.2:c.8046G>T MANE Select	ENSP00000498265.2:p.Leu2682Phe
ENST00000425232.6:c.7957+284G>T	ENSP00000389014.2:n.7957+284G>T
ENST00000508244.5:c.7957+284G>T	ENSP00000421690.1:n.7957+284G>T
ENST00000509849.5:c.5058G>T	ENSP00000426337.1:p.Leu1686Phe
ENST00000509957.5:n.288G>T
ENST00000511210.5:n.337G>T
ENST00000511824.2:c.1160G>T
ENST00000514429.5:c.5155+284G>T	ENSP00000424223.1:n.5155+284G>T
ENST00000515380.1:n.298G>T
NM_023073.3:c.7957+284G>T	NP_075561.3:n.7957+284G>T
XM_005248345.2:c.8046G>T	XP_005248402.1:p.Leu2682Phe
XM_005248346.2:c.8043G>T	XP_005248403.1:p.Leu2681Phe
XM_005248347.2:c.8043G>T	XP_005248404.1:p.Leu2681Phe
XM_005248349.2:c.8008+284G>T	XP_005248406.1:n.8008+284G>T
XM_005248350.2:c.7917G>T	XP_005248407.1:p.Leu2639Phe
XM_005248353.3:c.4689G>T	XP_005248410.1:p.Leu1563Phe
XM_006714489.2:c.8046G>T	XP_006714552.1:p.Leu2682Phe
XM_006714491.2:c.2619G>T	XP_006714554.1:p.Leu873Phe
XM_011514085.1:c.8046G>T	XP_011512387.1:p.Leu2682Phe
XM_011514086.1:c.8046G>T	XP_011512388.1:p.Leu2682Phe
XM_011514087.1:c.7992G>T	XP_011512389.1:p.Leu2664Phe
XM_011514088.1:c.8011+284G>T	XP_011512390.1:n.8011+284G>T
XM_011514089.1:c.8046G>T	XP_011512391.1:p.Leu2682Phe
XM_011514090.1:c.7728G>T	XP_011512392.1:p.Leu2576Phe
XM_011514091.1:c.7374G>T	XP_011512393.1:p.Leu2458Phe
XM_011514092.1:c.8046G>T	XP_011512394.1:p.Leu2682Phe
XM_011514094.1:c.5271G>T	XP_011512396.1:p.Leu1757Phe
XR_427661.2:n.8221G>T
XR_925644.1:n.8221G>T
XM_005248345.4:c.8046G>T	XP_005248402.1:p.Leu2682Phe
XM_005248346.4:c.8043G>T	XP_005248403.1:p.Leu2681Phe
XM_005248347.4:c.8043G>T	XP_005248404.1:p.Leu2681Phe
XM_005248349.4:c.8008+284G>T	XP_005248406.1:n.8008+284G>T
XM_005248350.4:c.7917G>T	XP_005248407.1:p.Leu2639Phe
XM_006714491.3:c.2619G>T	XP_006714554.1:p.Leu873Phe
XM_011514085.3:c.8046G>T	XP_011512387.1:p.Leu2682Phe
XM_011514086.3:c.8046G>T	XP_011512388.1:p.Leu2682Phe
XM_011514087.2:c.7992G>T	XP_011512389.1:p.Leu2664Phe
XM_011514088.2:c.8011+284G>T	XP_011512390.1:n.8011+284G>T
XM_011514089.2:c.8046G>T	XP_011512391.1:p.Leu2682Phe
XM_011514090.3:c.7728G>T	XP_011512392.1:p.Leu2576Phe
XM_011514092.2:c.8046G>T	XP_011512394.1:p.Leu2682Phe
XM_011514094.2:c.5271G>T	XP_011512396.1:p.Leu1757Phe
XM_017009760.1:c.7857G>T	XP_016865249.1:p.Leu2619Phe
XM_017009761.2:c.7857G>T	XP_016865250.1:p.Leu2619Phe
XM_017009763.1:c.7053G>T	XP_016865252.1:p.Leu2351Phe
XM_017009765.1:c.6858G>T	XP_016865254.1:p.Leu2286Phe
XM_017009766.1:c.4689G>T	XP_016865255.1:p.Leu1563Phe
XM_024446183.1:c.7857G>T	XP_024301951.1:p.Leu2619Phe
XM_024446184.1:c.7728G>T	XP_024301952.1:p.Leu2576Phe
XM_024446185.1:c.7374G>T	XP_024301953.1:p.Leu2458Phe
XM_024446186.1:c.7053G>T	XP_024301954.1:p.Leu2351Phe
XR_001742208.1:n.8215G>T
XR_002956171.1:n.8161G>T
XR_925644.2:n.8270G>T
NM_001384732.1:c.8046G>T MANE Select	NP_001371661.1:p.Leu2682Phe
NM_023073.4:c.7957+284G>T	NP_075561.3:n.7957+284G>T