Canonical Allele Identifier: CA3237577
Community Standard Title: NM_001384732.1(CPLANE1):c.9046C>T (p.Arg3016Ter)
Gene: CPLANE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37121756G>A , CM000667.2:g.37121756G>A GRCh38
NC_000005.9:g.37121858G>A , CM000667.1:g.37121858G>A GRCh37
NC_000005.8:g.37157615G>A NCBI36
NG_032772.1:g.132673C>T
NG_032772.2:g.132673C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001384732.1:c.9046C>T MANE Select NP_001371661.1:p.Arg3016Ter
ENST00000651892.2:c.9046C>T MANE Select ENSP00000498265.2:p.Arg3016Ter
NM_023073.3:c.8884C>T NP_075561.3:p.Arg2962Ter
NM_023073.4:c.8884C>T NP_075561.3:p.Arg2962Ter
ENST00000425232.6:c.8884C>T ENSP00000389014.2:p.Arg2962Ter
ENST00000508244.5:c.8884C>T ENSP00000421690.1:p.Arg2962Ter
ENST00000509849.5:c.6058C>T ENSP00000426337.1:n.6058C>T
ENST00000512288.5:n.370C>T
ENST00000514429.5:c.6082C>T ENSP00000424223.1:p.Arg2028Ter
ENST00000676160.1:n.1552C>T
XM_005248345.2:c.9046C>T XP_005248402.1:p.Arg3016Ter
XM_005248345.4:c.9046C>T XP_005248402.1:p.Arg3016Ter
XM_005248346.2:c.9043C>T XP_005248403.1:p.Arg3015Ter
XM_005248346.4:c.9043C>T XP_005248403.1:p.Arg3015Ter
XM_005248347.2:c.9043C>T XP_005248404.1:p.Arg3015Ter
XM_005248347.4:c.9043C>T XP_005248404.1:p.Arg3015Ter
XM_005248349.2:c.8935C>T XP_005248406.1:p.Arg2979Ter
XM_005248349.4:c.8935C>T XP_005248406.1:p.Arg2979Ter
XM_005248350.2:c.8917C>T XP_005248407.1:p.Arg2973Ter
XM_005248350.4:c.8917C>T XP_005248407.1:p.Arg2973Ter
XM_005248353.3:c.5689C>T XP_005248410.1:p.Arg1897Ter
XM_006714489.2:c.9046C>T XP_006714552.1:p.Arg3016Ter
XM_006714491.2:c.3619C>T XP_006714554.1:p.Arg1207Ter
XM_006714491.3:c.3619C>T XP_006714554.1:p.Arg1207Ter
XM_011514085.1:c.9046C>T XP_011512387.1:p.Arg3016Ter
XM_011514085.3:c.9046C>T XP_011512387.1:p.Arg3016Ter
XM_011514086.1:c.9046C>T XP_011512388.1:p.Arg3016Ter
XM_011514086.3:c.9046C>T XP_011512388.1:p.Arg3016Ter
XM_011514087.1:c.8992C>T XP_011512389.1:p.Arg2998Ter
XM_011514087.2:c.8992C>T XP_011512389.1:p.Arg2998Ter
XM_011514088.1:c.8938C>T XP_011512390.1:p.Arg2980Ter
XM_011514088.2:c.8938C>T XP_011512390.1:p.Arg2980Ter
XM_011514089.1:c.9046C>T XP_011512391.1:p.Arg3016Ter
XM_011514089.2:c.9046C>T XP_011512391.1:p.Arg3016Ter
XM_011514090.1:c.8728C>T XP_011512392.1:p.Arg2910Ter
XM_011514090.3:c.8728C>T XP_011512392.1:p.Arg2910Ter
XM_011514091.1:c.8374C>T XP_011512393.1:p.Arg2792Ter
XM_011514094.1:c.6271C>T XP_011512396.1:p.Arg2091Ter
XM_011514094.2:c.6271C>T XP_011512396.1:p.Arg2091Ter
XM_017009760.1:c.8857C>T XP_016865249.1:p.Arg2953Ter
XM_017009761.2:c.8857C>T XP_016865250.1:p.Arg2953Ter
XM_017009763.1:c.8053C>T XP_016865252.1:p.Arg2685Ter
XM_017009765.1:c.7858C>T XP_016865254.1:p.Arg2620Ter
XM_017009766.1:c.5689C>T XP_016865255.1:p.Arg1897Ter
XM_024446183.1:c.8857C>T XP_024301951.1:p.Arg2953Ter
XM_024446184.1:c.8728C>T XP_024301952.1:p.Arg2910Ter
XM_024446185.1:c.8374C>T XP_024301953.1:p.Arg2792Ter
XM_024446186.1:c.8053C>T XP_024301954.1:p.Arg2685Ter
XR_427661.2:n.9221C>T
XR_925644.1:n.9221C>T
XR_925644.2:n.9270C>T