Canonical Allele Identifier: CA359474221
Gene: CPLANE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37153932A>C , CM000667.2:g.37153932A>C GRCh38
NC_000005.9:g.37154034A>C , CM000667.1:g.37154034A>C GRCh37
NC_000005.8:g.37189791A>C NCBI36
NG_032772.1:g.100497T>G
NG_032772.2:g.100497T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000510830.2:n.1180T>G
ENST00000651892.2:c.8181T>G MANE Select ENSP00000498265.2:p.Asp2727Glu
ENST00000425232.6:c.8019T>G ENSP00000389014.2:p.Asp2673Glu
ENST00000508244.5:c.8019T>G ENSP00000421690.1:p.Asp2673Glu
ENST00000509849.5:c.5193T>G ENSP00000426337.1:p.Asp1731Glu
ENST00000509957.5:n.423T>G
ENST00000511210.5:n.472T>G
ENST00000511824.2:c.1295T>G
ENST00000514429.5:c.5217T>G ENSP00000424223.1:p.Asp1739Glu
ENST00000515380.1:n.433T>G
NM_023073.3:c.8019T>G NP_075561.3:p.Asp2673Glu
XM_005248345.2:c.8181T>G XP_005248402.1:p.Asp2727Glu
XM_005248346.2:c.8178T>G XP_005248403.1:p.Asp2726Glu
XM_005248347.2:c.8178T>G XP_005248404.1:p.Asp2726Glu
XM_005248349.2:c.8070T>G XP_005248406.1:p.Asp2690Glu
XM_005248350.2:c.8052T>G XP_005248407.1:p.Asp2684Glu
XM_005248353.3:c.4824T>G XP_005248410.1:p.Asp1608Glu
XM_006714489.2:c.8181T>G XP_006714552.1:p.Asp2727Glu
XM_006714491.2:c.2754T>G XP_006714554.1:p.Asp918Glu
XM_011514085.1:c.8181T>G XP_011512387.1:p.Asp2727Glu
XM_011514086.1:c.8181T>G XP_011512388.1:p.Asp2727Glu
XM_011514087.1:c.8127T>G XP_011512389.1:p.Asp2709Glu
XM_011514088.1:c.8073T>G XP_011512390.1:p.Asp2691Glu
XM_011514089.1:c.8181T>G XP_011512391.1:p.Asp2727Glu
XM_011514090.1:c.7863T>G XP_011512392.1:p.Asp2621Glu
XM_011514091.1:c.7509T>G XP_011512393.1:p.Asp2503Glu
XM_011514092.1:c.8181T>G XP_011512394.1:p.Asp2727Glu
XM_011514094.1:c.5406T>G XP_011512396.1:p.Asp1802Glu
XR_427661.2:n.8356T>G
XR_925644.1:n.8356T>G
XM_005248345.4:c.8181T>G XP_005248402.1:p.Asp2727Glu
XM_005248346.4:c.8178T>G XP_005248403.1:p.Asp2726Glu
XM_005248347.4:c.8178T>G XP_005248404.1:p.Asp2726Glu
XM_005248349.4:c.8070T>G XP_005248406.1:p.Asp2690Glu
XM_005248350.4:c.8052T>G XP_005248407.1:p.Asp2684Glu
XM_006714491.3:c.2754T>G XP_006714554.1:p.Asp918Glu
XM_011514085.3:c.8181T>G XP_011512387.1:p.Asp2727Glu
XM_011514086.3:c.8181T>G XP_011512388.1:p.Asp2727Glu
XM_011514087.2:c.8127T>G XP_011512389.1:p.Asp2709Glu
XM_011514088.2:c.8073T>G XP_011512390.1:p.Asp2691Glu
XM_011514089.2:c.8181T>G XP_011512391.1:p.Asp2727Glu
XM_011514090.3:c.7863T>G XP_011512392.1:p.Asp2621Glu
XM_011514092.2:c.8181T>G XP_011512394.1:p.Asp2727Glu
XM_011514094.2:c.5406T>G XP_011512396.1:p.Asp1802Glu
XM_017009760.1:c.7992T>G XP_016865249.1:p.Asp2664Glu
XM_017009761.2:c.7992T>G XP_016865250.1:p.Asp2664Glu
XM_017009763.1:c.7188T>G XP_016865252.1:p.Asp2396Glu
XM_017009765.1:c.6993T>G XP_016865254.1:p.Asp2331Glu
XM_017009766.1:c.4824T>G XP_016865255.1:p.Asp1608Glu
XM_024446183.1:c.7992T>G XP_024301951.1:p.Asp2664Glu
XM_024446184.1:c.7863T>G XP_024301952.1:p.Asp2621Glu
XM_024446185.1:c.7509T>G XP_024301953.1:p.Asp2503Glu
XM_024446186.1:c.7188T>G XP_024301954.1:p.Asp2396Glu
XR_001742208.1:n.8350T>G
XR_002956171.1:n.8296T>G
XR_925644.2:n.8405T>G
NM_001384732.1:c.8181T>G MANE Select NP_001371661.1:p.Asp2727Glu
NM_023073.4:c.8019T>G NP_075561.3:p.Asp2673Glu