Canonical Allele Identifier: CA443922082
Gene: CPLANE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.37125490T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37125388T>C , CM000667.2:g.37125388T>C GRCh38
NC_000005.9:g.37125490T>C , CM000667.1:g.37125490T>C GRCh37
NC_000005.8:g.37161247T>C NCBI36
NG_032772.1:g.129041A>G
NG_032772.2:g.129041A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000510830.2:n.1813A>G
ENST00000651892.2:c.8814A>G MANE Select ENSP00000498265.2:p.Arg2938=
ENST00000676160.1:n.675A>G
ENST00000425232.6:c.8652A>G ENSP00000389014.2:p.Arg2884=
ENST00000508244.5:c.8652A>G ENSP00000421690.1:p.Arg2884=
ENST00000509849.5:c.5826A>G ENSP00000426337.1:n.5826A>G
ENST00000509957.5:n.3995A>G
ENST00000512288.5:n.342-3604A>G
ENST00000514429.5:c.5850A>G ENSP00000424223.1:p.Arg1950=
NM_023073.3:c.8652A>G NP_075561.3:p.Arg2884=
XM_005248345.2:c.8814A>G XP_005248402.1:p.Arg2938=
XM_005248346.2:c.8811A>G XP_005248403.1:p.Arg2937=
XM_005248347.2:c.8811A>G XP_005248404.1:p.Arg2937=
XM_005248349.2:c.8703A>G XP_005248406.1:p.Arg2901=
XM_005248350.2:c.8685A>G XP_005248407.1:p.Arg2895=
XM_005248353.3:c.5457A>G XP_005248410.1:p.Arg1819=
XM_006714489.2:c.8814A>G XP_006714552.1:p.Arg2938=
XM_006714491.2:c.3387A>G XP_006714554.1:p.Arg1129=
XM_011514085.1:c.8814A>G XP_011512387.1:p.Arg2938=
XM_011514086.1:c.8814A>G XP_011512388.1:p.Arg2938=
XM_011514087.1:c.8760A>G XP_011512389.1:p.Arg2920=
XM_011514088.1:c.8706A>G XP_011512390.1:p.Arg2902=
XM_011514089.1:c.8814A>G XP_011512391.1:p.Arg2938=
XM_011514090.1:c.8496A>G XP_011512392.1:p.Arg2832=
XM_011514091.1:c.8142A>G XP_011512393.1:p.Arg2714=
XM_011514092.1:c.8814A>G XP_011512394.1:p.Arg2938=
XM_011514094.1:c.6039A>G XP_011512396.1:p.Arg2013=
XR_427661.2:n.8989A>G
XR_925644.1:n.8989A>G
XM_005248345.4:c.8814A>G XP_005248402.1:p.Arg2938=
XM_005248346.4:c.8811A>G XP_005248403.1:p.Arg2937=
XM_005248347.4:c.8811A>G XP_005248404.1:p.Arg2937=
XM_005248349.4:c.8703A>G XP_005248406.1:p.Arg2901=
XM_005248350.4:c.8685A>G XP_005248407.1:p.Arg2895=
XM_006714491.3:c.3387A>G XP_006714554.1:p.Arg1129=
XM_011514085.3:c.8814A>G XP_011512387.1:p.Arg2938=
XM_011514086.3:c.8814A>G XP_011512388.1:p.Arg2938=
XM_011514087.2:c.8760A>G XP_011512389.1:p.Arg2920=
XM_011514088.2:c.8706A>G XP_011512390.1:p.Arg2902=
XM_011514089.2:c.8814A>G XP_011512391.1:p.Arg2938=
XM_011514090.3:c.8496A>G XP_011512392.1:p.Arg2832=
XM_011514092.2:c.8814A>G XP_011512394.1:p.Arg2938=
XM_011514094.2:c.6039A>G XP_011512396.1:p.Arg2013=
XM_017009760.1:c.8625A>G XP_016865249.1:p.Arg2875=
XM_017009761.2:c.8625A>G XP_016865250.1:p.Arg2875=
XM_017009763.1:c.7821A>G XP_016865252.1:p.Arg2607=
XM_017009765.1:c.7626A>G XP_016865254.1:p.Arg2542=
XM_017009766.1:c.5457A>G XP_016865255.1:p.Arg1819=
XM_024446183.1:c.8625A>G XP_024301951.1:p.Arg2875=
XM_024446184.1:c.8496A>G XP_024301952.1:p.Arg2832=
XM_024446185.1:c.8142A>G XP_024301953.1:p.Arg2714=
XM_024446186.1:c.7821A>G XP_024301954.1:p.Arg2607=
XR_001742208.1:n.8983A>G
XR_925644.2:n.9038A>G
NM_001384732.1:c.8814A>G MANE Select NP_001371661.1:p.Arg2938=
NM_023073.4:c.8652A>G NP_075561.3:p.Arg2884=