Canonical Allele Identifier: CA443921907
Gene: CPLANE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.37122575T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37122473T>G , CM000667.2:g.37122473T>G GRCh38
NC_000005.9:g.37122575T>G , CM000667.1:g.37122575T>G GRCh37
NC_000005.8:g.37158332T>G NCBI36
NG_032772.1:g.131956A>C
NG_032772.2:g.131956A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651892.2:c.8974A>C MANE Select ENSP00000498265.2:p.Arg2992=
ENST00000676160.1:n.835A>C
ENST00000425232.6:c.8812A>C ENSP00000389014.2:p.Arg2938=
ENST00000508244.5:c.8812A>C ENSP00000421690.1:p.Arg2938=
ENST00000509849.5:c.5986A>C ENSP00000426337.1:n.5986A>C
ENST00000512288.5:n.342-689A>C
ENST00000514429.5:c.6010A>C ENSP00000424223.1:p.Arg2004=
NM_023073.3:c.8812A>C NP_075561.3:p.Arg2938=
XM_005248345.2:c.8974A>C XP_005248402.1:p.Arg2992=
XM_005248346.2:c.8971A>C XP_005248403.1:p.Arg2991=
XM_005248347.2:c.8971A>C XP_005248404.1:p.Arg2991=
XM_005248349.2:c.8863A>C XP_005248406.1:p.Arg2955=
XM_005248350.2:c.8845A>C XP_005248407.1:p.Arg2949=
XM_005248353.3:c.5617A>C XP_005248410.1:p.Arg1873=
XM_006714489.2:c.8974A>C XP_006714552.1:p.Arg2992=
XM_006714491.2:c.3547A>C XP_006714554.1:p.Arg1183=
XM_011514085.1:c.8974A>C XP_011512387.1:p.Arg2992=
XM_011514086.1:c.8974A>C XP_011512388.1:p.Arg2992=
XM_011514087.1:c.8920A>C XP_011512389.1:p.Arg2974=
XM_011514088.1:c.8866A>C XP_011512390.1:p.Arg2956=
XM_011514089.1:c.8974A>C XP_011512391.1:p.Arg2992=
XM_011514090.1:c.8656A>C XP_011512392.1:p.Arg2886=
XM_011514091.1:c.8302A>C XP_011512393.1:p.Arg2768=
XM_011514092.1:c.8974A>C XP_011512394.1:p.Arg2992=
XM_011514094.1:c.6199A>C XP_011512396.1:p.Arg2067=
XR_427661.2:n.9149A>C
XR_925644.1:n.9149A>C
XM_005248345.4:c.8974A>C XP_005248402.1:p.Arg2992=
XM_005248346.4:c.8971A>C XP_005248403.1:p.Arg2991=
XM_005248347.4:c.8971A>C XP_005248404.1:p.Arg2991=
XM_005248349.4:c.8863A>C XP_005248406.1:p.Arg2955=
XM_005248350.4:c.8845A>C XP_005248407.1:p.Arg2949=
XM_006714491.3:c.3547A>C XP_006714554.1:p.Arg1183=
XM_011514085.3:c.8974A>C XP_011512387.1:p.Arg2992=
XM_011514086.3:c.8974A>C XP_011512388.1:p.Arg2992=
XM_011514087.2:c.8920A>C XP_011512389.1:p.Arg2974=
XM_011514088.2:c.8866A>C XP_011512390.1:p.Arg2956=
XM_011514089.2:c.8974A>C XP_011512391.1:p.Arg2992=
XM_011514090.3:c.8656A>C XP_011512392.1:p.Arg2886=
XM_011514092.2:c.8974A>C XP_011512394.1:p.Arg2992=
XM_011514094.2:c.6199A>C XP_011512396.1:p.Arg2067=
XM_017009760.1:c.8785A>C XP_016865249.1:p.Arg2929=
XM_017009761.2:c.8785A>C XP_016865250.1:p.Arg2929=
XM_017009763.1:c.7981A>C XP_016865252.1:p.Arg2661=
XM_017009765.1:c.7786A>C XP_016865254.1:p.Arg2596=
XM_017009766.1:c.5617A>C XP_016865255.1:p.Arg1873=
XM_024446183.1:c.8785A>C XP_024301951.1:p.Arg2929=
XM_024446184.1:c.8656A>C XP_024301952.1:p.Arg2886=
XM_024446185.1:c.8302A>C XP_024301953.1:p.Arg2768=
XM_024446186.1:c.7981A>C XP_024301954.1:p.Arg2661=
XR_925644.2:n.9198A>C
NM_001384732.1:c.8974A>C MANE Select NP_001371661.1:p.Arg2992=
NM_023073.4:c.8812A>C NP_075561.3:p.Arg2938=