Canonical Allele Identifier: CA359474257

Gene: CPLANE1

Linked Data

• gnomAD v4: 5-37153940-C-T
• MyVariant Identifiers: chr5:g.37154042C>T (hg19) ; chr5:g.37153940C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153940C>T , CM000667.2:g.37153940C>T	GRCh38
NC_000005.9:g.37154042C>T , CM000667.1:g.37154042C>T	GRCh37
NC_000005.8:g.37189799C>T	NCBI36
NG_032772.1:g.100489G>A
NG_032772.2:g.100489G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1172G>A
ENST00000651892.2:c.8173G>A MANE Select	ENSP00000498265.2:p.Ala2725Thr
ENST00000425232.6:c.8011G>A	ENSP00000389014.2:p.Ala2671Thr
ENST00000508244.5:c.8011G>A	ENSP00000421690.1:p.Ala2671Thr
ENST00000509849.5:c.5185G>A	ENSP00000426337.1:p.Ala1729Thr
ENST00000509957.5:n.415G>A
ENST00000511210.5:n.464G>A
ENST00000511824.2:c.1287G>A
ENST00000514429.5:c.5209G>A	ENSP00000424223.1:p.Ala1737Thr
ENST00000515380.1:n.425G>A
NM_023073.3:c.8011G>A	NP_075561.3:p.Ala2671Thr
XM_005248345.2:c.8173G>A	XP_005248402.1:p.Ala2725Thr
XM_005248346.2:c.8170G>A	XP_005248403.1:p.Ala2724Thr
XM_005248347.2:c.8170G>A	XP_005248404.1:p.Ala2724Thr
XM_005248349.2:c.8062G>A	XP_005248406.1:p.Ala2688Thr
XM_005248350.2:c.8044G>A	XP_005248407.1:p.Ala2682Thr
XM_005248353.3:c.4816G>A	XP_005248410.1:p.Ala1606Thr
XM_006714489.2:c.8173G>A	XP_006714552.1:p.Ala2725Thr
XM_006714491.2:c.2746G>A	XP_006714554.1:p.Ala916Thr
XM_011514085.1:c.8173G>A	XP_011512387.1:p.Ala2725Thr
XM_011514086.1:c.8173G>A	XP_011512388.1:p.Ala2725Thr
XM_011514087.1:c.8119G>A	XP_011512389.1:p.Ala2707Thr
XM_011514088.1:c.8065G>A	XP_011512390.1:p.Ala2689Thr
XM_011514089.1:c.8173G>A	XP_011512391.1:p.Ala2725Thr
XM_011514090.1:c.7855G>A	XP_011512392.1:p.Ala2619Thr
XM_011514091.1:c.7501G>A	XP_011512393.1:p.Ala2501Thr
XM_011514092.1:c.8173G>A	XP_011512394.1:p.Ala2725Thr
XM_011514094.1:c.5398G>A	XP_011512396.1:p.Ala1800Thr
XR_427661.2:n.8348G>A
XR_925644.1:n.8348G>A
XM_005248345.4:c.8173G>A	XP_005248402.1:p.Ala2725Thr
XM_005248346.4:c.8170G>A	XP_005248403.1:p.Ala2724Thr
XM_005248347.4:c.8170G>A	XP_005248404.1:p.Ala2724Thr
XM_005248349.4:c.8062G>A	XP_005248406.1:p.Ala2688Thr
XM_005248350.4:c.8044G>A	XP_005248407.1:p.Ala2682Thr
XM_006714491.3:c.2746G>A	XP_006714554.1:p.Ala916Thr
XM_011514085.3:c.8173G>A	XP_011512387.1:p.Ala2725Thr
XM_011514086.3:c.8173G>A	XP_011512388.1:p.Ala2725Thr
XM_011514087.2:c.8119G>A	XP_011512389.1:p.Ala2707Thr
XM_011514088.2:c.8065G>A	XP_011512390.1:p.Ala2689Thr
XM_011514089.2:c.8173G>A	XP_011512391.1:p.Ala2725Thr
XM_011514090.3:c.7855G>A	XP_011512392.1:p.Ala2619Thr
XM_011514092.2:c.8173G>A	XP_011512394.1:p.Ala2725Thr
XM_011514094.2:c.5398G>A	XP_011512396.1:p.Ala1800Thr
XM_017009760.1:c.7984G>A	XP_016865249.1:p.Ala2662Thr
XM_017009761.2:c.7984G>A	XP_016865250.1:p.Ala2662Thr
XM_017009763.1:c.7180G>A	XP_016865252.1:p.Ala2394Thr
XM_017009765.1:c.6985G>A	XP_016865254.1:p.Ala2329Thr
XM_017009766.1:c.4816G>A	XP_016865255.1:p.Ala1606Thr
XM_024446183.1:c.7984G>A	XP_024301951.1:p.Ala2662Thr
XM_024446184.1:c.7855G>A	XP_024301952.1:p.Ala2619Thr
XM_024446185.1:c.7501G>A	XP_024301953.1:p.Ala2501Thr
XM_024446186.1:c.7180G>A	XP_024301954.1:p.Ala2394Thr
XR_001742208.1:n.8342G>A
XR_002956171.1:n.8288G>A
XR_925644.2:n.8397G>A
NM_001384732.1:c.8173G>A MANE Select	NP_001371661.1:p.Ala2725Thr
NM_023073.4:c.8011G>A	NP_075561.3:p.Ala2671Thr