Canonical Allele Identifier: CA444096633
Gene: CPLANE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.37153902A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37153800A>G , CM000667.2:g.37153800A>G GRCh38
NC_000005.9:g.37153902A>G , CM000667.1:g.37153902A>G GRCh37
NC_000005.8:g.37189659A>G NCBI36
NG_032772.1:g.100629T>C
NG_032772.2:g.100629T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000510830.2:n.1312T>C
ENST00000651892.2:c.8313T>C MANE Select ENSP00000498265.2:p.Ile2771=
ENST00000425232.6:c.8151T>C ENSP00000389014.2:p.Ile2717=
ENST00000508244.5:c.8151T>C ENSP00000421690.1:p.Ile2717=
ENST00000508405.1:n.45T>C
ENST00000509849.5:c.5325T>C ENSP00000426337.1:p.Ile1775=
ENST00000509957.5:n.555T>C
ENST00000511824.2:c.1427T>C
ENST00000514429.5:c.5349T>C ENSP00000424223.1:p.Ile1783=
NM_023073.3:c.8151T>C NP_075561.3:p.Ile2717=
XM_005248345.2:c.8313T>C XP_005248402.1:p.Ile2771=
XM_005248346.2:c.8310T>C XP_005248403.1:p.Ile2770=
XM_005248347.2:c.8310T>C XP_005248404.1:p.Ile2770=
XM_005248349.2:c.8202T>C XP_005248406.1:p.Ile2734=
XM_005248350.2:c.8184T>C XP_005248407.1:p.Ile2728=
XM_005248353.3:c.4956T>C XP_005248410.1:p.Ile1652=
XM_006714489.2:c.8313T>C XP_006714552.1:p.Ile2771=
XM_006714491.2:c.2886T>C XP_006714554.1:p.Ile962=
XM_011514085.1:c.8313T>C XP_011512387.1:p.Ile2771=
XM_011514086.1:c.8313T>C XP_011512388.1:p.Ile2771=
XM_011514087.1:c.8259T>C XP_011512389.1:p.Ile2753=
XM_011514088.1:c.8205T>C XP_011512390.1:p.Ile2735=
XM_011514089.1:c.8313T>C XP_011512391.1:p.Ile2771=
XM_011514090.1:c.7995T>C XP_011512392.1:p.Ile2665=
XM_011514091.1:c.7641T>C XP_011512393.1:p.Ile2547=
XM_011514092.1:c.8313T>C XP_011512394.1:p.Ile2771=
XM_011514094.1:c.5538T>C XP_011512396.1:p.Ile1846=
XR_427661.2:n.8488T>C
XR_925644.1:n.8488T>C
XM_005248345.4:c.8313T>C XP_005248402.1:p.Ile2771=
XM_005248346.4:c.8310T>C XP_005248403.1:p.Ile2770=
XM_005248347.4:c.8310T>C XP_005248404.1:p.Ile2770=
XM_005248349.4:c.8202T>C XP_005248406.1:p.Ile2734=
XM_005248350.4:c.8184T>C XP_005248407.1:p.Ile2728=
XM_006714491.3:c.2886T>C XP_006714554.1:p.Ile962=
XM_011514085.3:c.8313T>C XP_011512387.1:p.Ile2771=
XM_011514086.3:c.8313T>C XP_011512388.1:p.Ile2771=
XM_011514087.2:c.8259T>C XP_011512389.1:p.Ile2753=
XM_011514088.2:c.8205T>C XP_011512390.1:p.Ile2735=
XM_011514089.2:c.8313T>C XP_011512391.1:p.Ile2771=
XM_011514090.3:c.7995T>C XP_011512392.1:p.Ile2665=
XM_011514092.2:c.8313T>C XP_011512394.1:p.Ile2771=
XM_011514094.2:c.5538T>C XP_011512396.1:p.Ile1846=
XM_017009760.1:c.8124T>C XP_016865249.1:p.Ile2708=
XM_017009761.2:c.8124T>C XP_016865250.1:p.Ile2708=
XM_017009763.1:c.7320T>C XP_016865252.1:p.Ile2440=
XM_017009765.1:c.7125T>C XP_016865254.1:p.Ile2375=
XM_017009766.1:c.4956T>C XP_016865255.1:p.Ile1652=
XM_024446183.1:c.8124T>C XP_024301951.1:p.Ile2708=
XM_024446184.1:c.7995T>C XP_024301952.1:p.Ile2665=
XM_024446185.1:c.7641T>C XP_024301953.1:p.Ile2547=
XM_024446186.1:c.7320T>C XP_024301954.1:p.Ile2440=
XR_001742208.1:n.8482T>C
XR_002956171.1:n.8428T>C
XR_925644.2:n.8537T>C
NM_001384732.1:c.8313T>C MANE Select NP_001371661.1:p.Ile2771=
NM_023073.4:c.8151T>C NP_075561.3:p.Ile2717=