Canonical Allele Identifier: CA359498293
Gene: CPLANE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37125245G>T , CM000667.2:g.37125245G>T GRCh38
NC_000005.9:g.37125347G>T , CM000667.1:g.37125347G>T GRCh37
NC_000005.8:g.37161104G>T NCBI36
NG_032772.1:g.129184C>A
NG_032772.2:g.129184C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000510830.2:n.1956C>A
ENST00000651892.2:c.8957C>A MANE Select ENSP00000498265.2:p.Pro2986Gln
ENST00000676160.1:n.818C>A
ENST00000425232.6:c.8795C>A ENSP00000389014.2:p.Pro2932Gln
ENST00000508244.5:c.8795C>A ENSP00000421690.1:p.Pro2932Gln
ENST00000509849.5:c.5969C>A ENSP00000426337.1:n.5969C>A
ENST00000509957.5:n.4138C>A
ENST00000512288.5:n.342-3461C>A
ENST00000514429.5:c.5993C>A ENSP00000424223.1:p.Pro1998Gln
NM_023073.3:c.8795C>A NP_075561.3:p.Pro2932Gln
XM_005248345.2:c.8957C>A XP_005248402.1:p.Pro2986Gln
XM_005248346.2:c.8954C>A XP_005248403.1:p.Pro2985Gln
XM_005248347.2:c.8954C>A XP_005248404.1:p.Pro2985Gln
XM_005248349.2:c.8846C>A XP_005248406.1:p.Pro2949Gln
XM_005248350.2:c.8828C>A XP_005248407.1:p.Pro2943Gln
XM_005248353.3:c.5600C>A XP_005248410.1:p.Pro1867Gln
XM_006714489.2:c.8957C>A XP_006714552.1:p.Pro2986Gln
XM_006714491.2:c.3530C>A XP_006714554.1:p.Pro1177Gln
XM_011514085.1:c.8957C>A XP_011512387.1:p.Pro2986Gln
XM_011514086.1:c.8957C>A XP_011512388.1:p.Pro2986Gln
XM_011514087.1:c.8903C>A XP_011512389.1:p.Pro2968Gln
XM_011514088.1:c.8849C>A XP_011512390.1:p.Pro2950Gln
XM_011514089.1:c.8957C>A XP_011512391.1:p.Pro2986Gln
XM_011514090.1:c.8639C>A XP_011512392.1:p.Pro2880Gln
XM_011514091.1:c.8285C>A XP_011512393.1:p.Pro2762Gln
XM_011514092.1:c.8957C>A XP_011512394.1:p.Pro2986Gln
XM_011514094.1:c.6182C>A XP_011512396.1:p.Pro2061Gln
XR_427661.2:n.9132C>A
XR_925644.1:n.9132C>A
XM_005248345.4:c.8957C>A XP_005248402.1:p.Pro2986Gln
XM_005248346.4:c.8954C>A XP_005248403.1:p.Pro2985Gln
XM_005248347.4:c.8954C>A XP_005248404.1:p.Pro2985Gln
XM_005248349.4:c.8846C>A XP_005248406.1:p.Pro2949Gln
XM_005248350.4:c.8828C>A XP_005248407.1:p.Pro2943Gln
XM_006714491.3:c.3530C>A XP_006714554.1:p.Pro1177Gln
XM_011514085.3:c.8957C>A XP_011512387.1:p.Pro2986Gln
XM_011514086.3:c.8957C>A XP_011512388.1:p.Pro2986Gln
XM_011514087.2:c.8903C>A XP_011512389.1:p.Pro2968Gln
XM_011514088.2:c.8849C>A XP_011512390.1:p.Pro2950Gln
XM_011514089.2:c.8957C>A XP_011512391.1:p.Pro2986Gln
XM_011514090.3:c.8639C>A XP_011512392.1:p.Pro2880Gln
XM_011514092.2:c.8957C>A XP_011512394.1:p.Pro2986Gln
XM_011514094.2:c.6182C>A XP_011512396.1:p.Pro2061Gln
XM_017009760.1:c.8768C>A XP_016865249.1:p.Pro2923Gln
XM_017009761.2:c.8768C>A XP_016865250.1:p.Pro2923Gln
XM_017009763.1:c.7964C>A XP_016865252.1:p.Pro2655Gln
XM_017009765.1:c.7769C>A XP_016865254.1:p.Pro2590Gln
XM_017009766.1:c.5600C>A XP_016865255.1:p.Pro1867Gln
XM_024446183.1:c.8768C>A XP_024301951.1:p.Pro2923Gln
XM_024446184.1:c.8639C>A XP_024301952.1:p.Pro2880Gln
XM_024446185.1:c.8285C>A XP_024301953.1:p.Pro2762Gln
XM_024446186.1:c.7964C>A XP_024301954.1:p.Pro2655Gln
XR_925644.2:n.9181C>A
NM_001384732.1:c.8957C>A MANE Select NP_001371661.1:p.Pro2986Gln
NM_023073.4:c.8795C>A NP_075561.3:p.Pro2932Gln