Canonical Allele Identifier: CA444096481
Gene: CPLANE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.37154082T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37153980T>G , CM000667.2:g.37153980T>G GRCh38
NC_000005.9:g.37154082T>G , CM000667.1:g.37154082T>G GRCh37
NC_000005.8:g.37189839T>G NCBI36
NG_032772.1:g.100449A>C
NG_032772.2:g.100449A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000510830.2:n.1132A>C
ENST00000651892.2:c.8133A>C MANE Select ENSP00000498265.2:p.Pro2711=
ENST00000425232.6:c.7971A>C ENSP00000389014.2:p.Pro2657=
ENST00000508244.5:c.7971A>C ENSP00000421690.1:p.Pro2657=
ENST00000509849.5:c.5145A>C ENSP00000426337.1:p.Pro1715=
ENST00000509957.5:n.375A>C
ENST00000511210.5:n.424A>C
ENST00000511824.2:c.1247A>C
ENST00000514429.5:c.5169A>C ENSP00000424223.1:p.Pro1723=
ENST00000515380.1:n.385A>C
NM_023073.3:c.7971A>C NP_075561.3:p.Pro2657=
XM_005248345.2:c.8133A>C XP_005248402.1:p.Pro2711=
XM_005248346.2:c.8130A>C XP_005248403.1:p.Pro2710=
XM_005248347.2:c.8130A>C XP_005248404.1:p.Pro2710=
XM_005248349.2:c.8022A>C XP_005248406.1:p.Pro2674=
XM_005248350.2:c.8004A>C XP_005248407.1:p.Pro2668=
XM_005248353.3:c.4776A>C XP_005248410.1:p.Pro1592=
XM_006714489.2:c.8133A>C XP_006714552.1:p.Pro2711=
XM_006714491.2:c.2706A>C XP_006714554.1:p.Pro902=
XM_011514085.1:c.8133A>C XP_011512387.1:p.Pro2711=
XM_011514086.1:c.8133A>C XP_011512388.1:p.Pro2711=
XM_011514087.1:c.8079A>C XP_011512389.1:p.Pro2693=
XM_011514088.1:c.8025A>C XP_011512390.1:p.Pro2675=
XM_011514089.1:c.8133A>C XP_011512391.1:p.Pro2711=
XM_011514090.1:c.7815A>C XP_011512392.1:p.Pro2605=
XM_011514091.1:c.7461A>C XP_011512393.1:p.Pro2487=
XM_011514092.1:c.8133A>C XP_011512394.1:p.Pro2711=
XM_011514094.1:c.5358A>C XP_011512396.1:p.Pro1786=
XR_427661.2:n.8308A>C
XR_925644.1:n.8308A>C
XM_005248345.4:c.8133A>C XP_005248402.1:p.Pro2711=
XM_005248346.4:c.8130A>C XP_005248403.1:p.Pro2710=
XM_005248347.4:c.8130A>C XP_005248404.1:p.Pro2710=
XM_005248349.4:c.8022A>C XP_005248406.1:p.Pro2674=
XM_005248350.4:c.8004A>C XP_005248407.1:p.Pro2668=
XM_006714491.3:c.2706A>C XP_006714554.1:p.Pro902=
XM_011514085.3:c.8133A>C XP_011512387.1:p.Pro2711=
XM_011514086.3:c.8133A>C XP_011512388.1:p.Pro2711=
XM_011514087.2:c.8079A>C XP_011512389.1:p.Pro2693=
XM_011514088.2:c.8025A>C XP_011512390.1:p.Pro2675=
XM_011514089.2:c.8133A>C XP_011512391.1:p.Pro2711=
XM_011514090.3:c.7815A>C XP_011512392.1:p.Pro2605=
XM_011514092.2:c.8133A>C XP_011512394.1:p.Pro2711=
XM_011514094.2:c.5358A>C XP_011512396.1:p.Pro1786=
XM_017009760.1:c.7944A>C XP_016865249.1:p.Pro2648=
XM_017009761.2:c.7944A>C XP_016865250.1:p.Pro2648=
XM_017009763.1:c.7140A>C XP_016865252.1:p.Pro2380=
XM_017009765.1:c.6945A>C XP_016865254.1:p.Pro2315=
XM_017009766.1:c.4776A>C XP_016865255.1:p.Pro1592=
XM_024446183.1:c.7944A>C XP_024301951.1:p.Pro2648=
XM_024446184.1:c.7815A>C XP_024301952.1:p.Pro2605=
XM_024446185.1:c.7461A>C XP_024301953.1:p.Pro2487=
XM_024446186.1:c.7140A>C XP_024301954.1:p.Pro2380=
XR_001742208.1:n.8302A>C
XR_002956171.1:n.8248A>C
XR_925644.2:n.8357A>C
NM_001384732.1:c.8133A>C MANE Select NP_001371661.1:p.Pro2711=
NM_023073.4:c.7971A>C NP_075561.3:p.Pro2657=