Canonical Allele Identifier: CA2578290828
Gene: CPLANE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37165510G>T , CM000667.2:g.37165510G>T GRCh38
NC_000005.9:g.37165612G>T , CM000667.1:g.37165612G>T GRCh37
NC_000005.8:g.37201369G>T NCBI36
NG_032772.1:g.88919C>A
NG_032772.2:g.88919C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000651892.2:c.7533+29C>A MANE Select ENSP00000498265.2:n.7533+29C>A
ENST00000675149.1:n.682C>A
ENST00000425232.6:c.7533+29C>A ENSP00000389014.2:n.7533+29C>A
ENST00000508244.5:c.7533+29C>A ENSP00000421690.1:n.7533+29C>A
ENST00000509849.5:c.4545+29C>A ENSP00000426337.1:n.4545+29C>A
ENST00000511824.2:c.605+29C>A
ENST00000514429.5:c.4677+29C>A ENSP00000424223.1:n.4677+29C>A
NM_023073.3:c.7533+29C>A NP_075561.3:n.7533+29C>A
XM_005248345.2:c.7533+29C>A XP_005248402.1:n.7533+29C>A
XM_005248346.2:c.7530+29C>A XP_005248403.1:n.7530+29C>A
XM_005248347.2:c.7530+29C>A XP_005248404.1:n.7530+29C>A
XM_005248349.2:c.7530+29C>A XP_005248406.1:n.7530+29C>A
XM_005248350.2:c.7404+29C>A XP_005248407.1:n.7404+29C>A
XM_005248353.3:c.4176+29C>A XP_005248410.1:n.4176+29C>A
XM_006714489.2:c.7533+29C>A XP_006714552.1:n.7533+29C>A
XM_006714491.2:c.2106+29C>A XP_006714554.1:n.2106+29C>A
XM_011514085.1:c.7533+29C>A XP_011512387.1:n.7533+29C>A
XM_011514086.1:c.7533+29C>A XP_011512388.1:n.7533+29C>A
XM_011514087.1:c.7533+29C>A XP_011512389.1:n.7533+29C>A
XM_011514088.1:c.7533+29C>A XP_011512390.1:n.7533+29C>A
XM_011514089.1:c.7533+29C>A XP_011512391.1:n.7533+29C>A
XM_011514090.1:c.7215+29C>A XP_011512392.1:n.7215+29C>A
XM_011514091.1:c.6861+29C>A XP_011512393.1:n.6861+29C>A
XM_011514092.1:c.7533+29C>A XP_011512394.1:n.7533+29C>A
XM_011514093.1:c.7533+29C>A XP_011512395.1:n.7533+29C>A
XM_011514094.1:c.4758+29C>A XP_011512396.1:n.4758+29C>A
XR_427661.2:n.7708+29C>A
XR_925644.1:n.7708+29C>A
XM_005248345.4:c.7533+29C>A XP_005248402.1:n.7533+29C>A
XM_005248346.4:c.7530+29C>A XP_005248403.1:n.7530+29C>A
XM_005248347.4:c.7530+29C>A XP_005248404.1:n.7530+29C>A
XM_005248349.4:c.7530+29C>A XP_005248406.1:n.7530+29C>A
XM_005248350.4:c.7404+29C>A XP_005248407.1:n.7404+29C>A
XM_006714491.3:c.2106+29C>A XP_006714554.1:n.2106+29C>A
XM_011514085.3:c.7533+29C>A XP_011512387.1:n.7533+29C>A
XM_011514086.3:c.7533+29C>A XP_011512388.1:n.7533+29C>A
XM_011514087.2:c.7533+29C>A XP_011512389.1:n.7533+29C>A
XM_011514088.2:c.7533+29C>A XP_011512390.1:n.7533+29C>A
XM_011514089.2:c.7533+29C>A XP_011512391.1:n.7533+29C>A
XM_011514090.3:c.7215+29C>A XP_011512392.1:n.7215+29C>A
XM_011514092.2:c.7533+29C>A XP_011512394.1:n.7533+29C>A
XM_011514094.2:c.4758+29C>A XP_011512396.1:n.4758+29C>A
XM_017009760.1:c.7344+29C>A XP_016865249.1:n.7344+29C>A
XM_017009761.2:c.7344+29C>A XP_016865250.1:n.7344+29C>A
XM_017009763.1:c.6540+29C>A XP_016865252.1:n.6540+29C>A
XM_017009765.1:c.6345+29C>A XP_016865254.1:n.6345+29C>A
XM_017009766.1:c.4176+29C>A XP_016865255.1:n.4176+29C>A
XM_024446183.1:c.7344+29C>A XP_024301951.1:n.7344+29C>A
XM_024446184.1:c.7215+29C>A XP_024301952.1:n.7215+29C>A
XM_024446185.1:c.6861+29C>A XP_024301953.1:n.6861+29C>A
XM_024446186.1:c.6540+29C>A XP_024301954.1:n.6540+29C>A
XR_001742208.1:n.7757+29C>A
XR_002956171.1:n.7757+29C>A
XR_925644.2:n.7757+29C>A
NM_001384732.1:c.7533+29C>A MANE Select NP_001371661.1:n.7533+29C>A
NM_023073.4:c.7533+29C>A NP_075561.3:n.7533+29C>A