Canonical Allele Identifier: CA359473886
Gene: CPLANE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37153837T>C , CM000667.2:g.37153837T>C GRCh38
NC_000005.9:g.37153939T>C , CM000667.1:g.37153939T>C GRCh37
NC_000005.8:g.37189696T>C NCBI36
NG_032772.1:g.100592A>G
NG_032772.2:g.100592A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000510830.2:n.1275A>G
ENST00000651892.2:c.8276A>G MANE Select ENSP00000498265.2:p.Gln2759Arg
ENST00000425232.6:c.8114A>G ENSP00000389014.2:p.Gln2705Arg
ENST00000508244.5:c.8114A>G ENSP00000421690.1:p.Gln2705Arg
ENST00000508405.1:n.8A>G
ENST00000509849.5:c.5288A>G ENSP00000426337.1:p.Gln1763Arg
ENST00000509957.5:n.518A>G
ENST00000511824.2:c.1390A>G
ENST00000514429.5:c.5312A>G ENSP00000424223.1:p.Gln1771Arg
NM_023073.3:c.8114A>G NP_075561.3:p.Gln2705Arg
XM_005248345.2:c.8276A>G XP_005248402.1:p.Gln2759Arg
XM_005248346.2:c.8273A>G XP_005248403.1:p.Gln2758Arg
XM_005248347.2:c.8273A>G XP_005248404.1:p.Gln2758Arg
XM_005248349.2:c.8165A>G XP_005248406.1:p.Gln2722Arg
XM_005248350.2:c.8147A>G XP_005248407.1:p.Gln2716Arg
XM_005248353.3:c.4919A>G XP_005248410.1:p.Gln1640Arg
XM_006714489.2:c.8276A>G XP_006714552.1:p.Gln2759Arg
XM_006714491.2:c.2849A>G XP_006714554.1:p.Gln950Arg
XM_011514085.1:c.8276A>G XP_011512387.1:p.Gln2759Arg
XM_011514086.1:c.8276A>G XP_011512388.1:p.Gln2759Arg
XM_011514087.1:c.8222A>G XP_011512389.1:p.Gln2741Arg
XM_011514088.1:c.8168A>G XP_011512390.1:p.Gln2723Arg
XM_011514089.1:c.8276A>G XP_011512391.1:p.Gln2759Arg
XM_011514090.1:c.7958A>G XP_011512392.1:p.Gln2653Arg
XM_011514091.1:c.7604A>G XP_011512393.1:p.Gln2535Arg
XM_011514092.1:c.8276A>G XP_011512394.1:p.Gln2759Arg
XM_011514094.1:c.5501A>G XP_011512396.1:p.Gln1834Arg
XR_427661.2:n.8451A>G
XR_925644.1:n.8451A>G
XM_005248345.4:c.8276A>G XP_005248402.1:p.Gln2759Arg
XM_005248346.4:c.8273A>G XP_005248403.1:p.Gln2758Arg
XM_005248347.4:c.8273A>G XP_005248404.1:p.Gln2758Arg
XM_005248349.4:c.8165A>G XP_005248406.1:p.Gln2722Arg
XM_005248350.4:c.8147A>G XP_005248407.1:p.Gln2716Arg
XM_006714491.3:c.2849A>G XP_006714554.1:p.Gln950Arg
XM_011514085.3:c.8276A>G XP_011512387.1:p.Gln2759Arg
XM_011514086.3:c.8276A>G XP_011512388.1:p.Gln2759Arg
XM_011514087.2:c.8222A>G XP_011512389.1:p.Gln2741Arg
XM_011514088.2:c.8168A>G XP_011512390.1:p.Gln2723Arg
XM_011514089.2:c.8276A>G XP_011512391.1:p.Gln2759Arg
XM_011514090.3:c.7958A>G XP_011512392.1:p.Gln2653Arg
XM_011514092.2:c.8276A>G XP_011512394.1:p.Gln2759Arg
XM_011514094.2:c.5501A>G XP_011512396.1:p.Gln1834Arg
XM_017009760.1:c.8087A>G XP_016865249.1:p.Gln2696Arg
XM_017009761.2:c.8087A>G XP_016865250.1:p.Gln2696Arg
XM_017009763.1:c.7283A>G XP_016865252.1:p.Gln2428Arg
XM_017009765.1:c.7088A>G XP_016865254.1:p.Gln2363Arg
XM_017009766.1:c.4919A>G XP_016865255.1:p.Gln1640Arg
XM_024446183.1:c.8087A>G XP_024301951.1:p.Gln2696Arg
XM_024446184.1:c.7958A>G XP_024301952.1:p.Gln2653Arg
XM_024446185.1:c.7604A>G XP_024301953.1:p.Gln2535Arg
XM_024446186.1:c.7283A>G XP_024301954.1:p.Gln2428Arg
XR_001742208.1:n.8445A>G
XR_002956171.1:n.8391A>G
XR_925644.2:n.8500A>G
NM_001384732.1:c.8276A>G MANE Select NP_001371661.1:p.Gln2759Arg
NM_023073.4:c.8114A>G NP_075561.3:p.Gln2705Arg