Canonical Allele Identifier: CA3237878

Gene: CPLANE1

Linked Data

• dbSNP Id: rs371265598
• ExAC: 5:37157483 G / T
• gnomAD v2: 5-37157483-G-T
• gnomAD v3: 5-37157381-G-T
• gnomAD v4: 5-37157381-G-T
• MyVariant Identifiers: chr5:g.37157483G>T (hg19) ; chr5:g.37157381G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37157381G>T , CM000667.2:g.37157381G>T	GRCh38
NC_000005.9:g.37157483G>T , CM000667.1:g.37157483G>T	GRCh37
NC_000005.8:g.37193240G>T	NCBI36
NG_032772.1:g.97048C>A
NG_032772.2:g.97048C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1050C>A
ENST00000651892.2:c.8051C>A MANE Select	ENSP00000498265.2:p.Ala2684Glu
ENST00000425232.6:c.7957+289C>A	ENSP00000389014.2:n.7957+289C>A
ENST00000508244.5:c.7957+289C>A	ENSP00000421690.1:n.7957+289C>A
ENST00000509849.5:c.5063C>A	ENSP00000426337.1:p.Ala1688Glu
ENST00000509957.5:n.293C>A
ENST00000511210.5:n.342C>A
ENST00000511824.2:c.1165C>A
ENST00000514429.5:c.5155+289C>A	ENSP00000424223.1:n.5155+289C>A
ENST00000515380.1:n.303C>A
NM_023073.3:c.7957+289C>A	NP_075561.3:n.7957+289C>A
XM_005248345.2:c.8051C>A	XP_005248402.1:p.Ala2684Glu
XM_005248346.2:c.8048C>A	XP_005248403.1:p.Ala2683Glu
XM_005248347.2:c.8048C>A	XP_005248404.1:p.Ala2683Glu
XM_005248349.2:c.8008+289C>A	XP_005248406.1:n.8008+289C>A
XM_005248350.2:c.7922C>A	XP_005248407.1:p.Ala2641Glu
XM_005248353.3:c.4694C>A	XP_005248410.1:p.Ala1565Glu
XM_006714489.2:c.8051C>A	XP_006714552.1:p.Ala2684Glu
XM_006714491.2:c.2624C>A	XP_006714554.1:p.Ala875Glu
XM_011514085.1:c.8051C>A	XP_011512387.1:p.Ala2684Glu
XM_011514086.1:c.8051C>A	XP_011512388.1:p.Ala2684Glu
XM_011514087.1:c.7997C>A	XP_011512389.1:p.Ala2666Glu
XM_011514088.1:c.8011+289C>A	XP_011512390.1:n.8011+289C>A
XM_011514089.1:c.8051C>A	XP_011512391.1:p.Ala2684Glu
XM_011514090.1:c.7733C>A	XP_011512392.1:p.Ala2578Glu
XM_011514091.1:c.7379C>A	XP_011512393.1:p.Ala2460Glu
XM_011514092.1:c.8051C>A	XP_011512394.1:p.Ala2684Glu
XM_011514094.1:c.5276C>A	XP_011512396.1:p.Ala1759Glu
XR_427661.2:n.8226C>A
XR_925644.1:n.8226C>A
XM_005248345.4:c.8051C>A	XP_005248402.1:p.Ala2684Glu
XM_005248346.4:c.8048C>A	XP_005248403.1:p.Ala2683Glu
XM_005248347.4:c.8048C>A	XP_005248404.1:p.Ala2683Glu
XM_005248349.4:c.8008+289C>A	XP_005248406.1:n.8008+289C>A
XM_005248350.4:c.7922C>A	XP_005248407.1:p.Ala2641Glu
XM_006714491.3:c.2624C>A	XP_006714554.1:p.Ala875Glu
XM_011514085.3:c.8051C>A	XP_011512387.1:p.Ala2684Glu
XM_011514086.3:c.8051C>A	XP_011512388.1:p.Ala2684Glu
XM_011514087.2:c.7997C>A	XP_011512389.1:p.Ala2666Glu
XM_011514088.2:c.8011+289C>A	XP_011512390.1:n.8011+289C>A
XM_011514089.2:c.8051C>A	XP_011512391.1:p.Ala2684Glu
XM_011514090.3:c.7733C>A	XP_011512392.1:p.Ala2578Glu
XM_011514092.2:c.8051C>A	XP_011512394.1:p.Ala2684Glu
XM_011514094.2:c.5276C>A	XP_011512396.1:p.Ala1759Glu
XM_017009760.1:c.7862C>A	XP_016865249.1:p.Ala2621Glu
XM_017009761.2:c.7862C>A	XP_016865250.1:p.Ala2621Glu
XM_017009763.1:c.7058C>A	XP_016865252.1:p.Ala2353Glu
XM_017009765.1:c.6863C>A	XP_016865254.1:p.Ala2288Glu
XM_017009766.1:c.4694C>A	XP_016865255.1:p.Ala1565Glu
XM_024446183.1:c.7862C>A	XP_024301951.1:p.Ala2621Glu
XM_024446184.1:c.7733C>A	XP_024301952.1:p.Ala2578Glu
XM_024446185.1:c.7379C>A	XP_024301953.1:p.Ala2460Glu
XM_024446186.1:c.7058C>A	XP_024301954.1:p.Ala2353Glu
XR_001742208.1:n.8220C>A
XR_002956171.1:n.8166C>A
XR_925644.2:n.8275C>A
NM_001384732.1:c.8051C>A MANE Select	NP_001371661.1:p.Ala2684Glu
NM_023073.4:c.7957+289C>A	NP_075561.3:n.7957+289C>A