Canonical Allele Identifier: CA443921976
Gene: CPLANE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.37125346T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37125244T>G , CM000667.2:g.37125244T>G GRCh38
NC_000005.9:g.37125346T>G , CM000667.1:g.37125346T>G GRCh37
NC_000005.8:g.37161103T>G NCBI36
NG_032772.1:g.129185A>C
NG_032772.2:g.129185A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000510830.2:n.1957A>C
ENST00000651892.2:c.8958A>C MANE Select ENSP00000498265.2:p.Pro2986=
ENST00000676160.1:n.819A>C
ENST00000425232.6:c.8796A>C ENSP00000389014.2:p.Pro2932=
ENST00000508244.5:c.8796A>C ENSP00000421690.1:p.Pro2932=
ENST00000509849.5:c.5970A>C ENSP00000426337.1:n.5970A>C
ENST00000509957.5:n.4139A>C
ENST00000512288.5:n.342-3460A>C
ENST00000514429.5:c.5994A>C ENSP00000424223.1:p.Pro1998=
NM_023073.3:c.8796A>C NP_075561.3:p.Pro2932=
XM_005248345.2:c.8958A>C XP_005248402.1:p.Pro2986=
XM_005248346.2:c.8955A>C XP_005248403.1:p.Pro2985=
XM_005248347.2:c.8955A>C XP_005248404.1:p.Pro2985=
XM_005248349.2:c.8847A>C XP_005248406.1:p.Pro2949=
XM_005248350.2:c.8829A>C XP_005248407.1:p.Pro2943=
XM_005248353.3:c.5601A>C XP_005248410.1:p.Pro1867=
XM_006714489.2:c.8958A>C XP_006714552.1:p.Pro2986=
XM_006714491.2:c.3531A>C XP_006714554.1:p.Pro1177=
XM_011514085.1:c.8958A>C XP_011512387.1:p.Pro2986=
XM_011514086.1:c.8958A>C XP_011512388.1:p.Pro2986=
XM_011514087.1:c.8904A>C XP_011512389.1:p.Pro2968=
XM_011514088.1:c.8850A>C XP_011512390.1:p.Pro2950=
XM_011514089.1:c.8958A>C XP_011512391.1:p.Pro2986=
XM_011514090.1:c.8640A>C XP_011512392.1:p.Pro2880=
XM_011514091.1:c.8286A>C XP_011512393.1:p.Pro2762=
XM_011514092.1:c.8958A>C XP_011512394.1:p.Pro2986=
XM_011514094.1:c.6183A>C XP_011512396.1:p.Pro2061=
XR_427661.2:n.9133A>C
XR_925644.1:n.9133A>C
XM_005248345.4:c.8958A>C XP_005248402.1:p.Pro2986=
XM_005248346.4:c.8955A>C XP_005248403.1:p.Pro2985=
XM_005248347.4:c.8955A>C XP_005248404.1:p.Pro2985=
XM_005248349.4:c.8847A>C XP_005248406.1:p.Pro2949=
XM_005248350.4:c.8829A>C XP_005248407.1:p.Pro2943=
XM_006714491.3:c.3531A>C XP_006714554.1:p.Pro1177=
XM_011514085.3:c.8958A>C XP_011512387.1:p.Pro2986=
XM_011514086.3:c.8958A>C XP_011512388.1:p.Pro2986=
XM_011514087.2:c.8904A>C XP_011512389.1:p.Pro2968=
XM_011514088.2:c.8850A>C XP_011512390.1:p.Pro2950=
XM_011514089.2:c.8958A>C XP_011512391.1:p.Pro2986=
XM_011514090.3:c.8640A>C XP_011512392.1:p.Pro2880=
XM_011514092.2:c.8958A>C XP_011512394.1:p.Pro2986=
XM_011514094.2:c.6183A>C XP_011512396.1:p.Pro2061=
XM_017009760.1:c.8769A>C XP_016865249.1:p.Pro2923=
XM_017009761.2:c.8769A>C XP_016865250.1:p.Pro2923=
XM_017009763.1:c.7965A>C XP_016865252.1:p.Pro2655=
XM_017009765.1:c.7770A>C XP_016865254.1:p.Pro2590=
XM_017009766.1:c.5601A>C XP_016865255.1:p.Pro1867=
XM_024446183.1:c.8769A>C XP_024301951.1:p.Pro2923=
XM_024446184.1:c.8640A>C XP_024301952.1:p.Pro2880=
XM_024446185.1:c.8286A>C XP_024301953.1:p.Pro2762=
XM_024446186.1:c.7965A>C XP_024301954.1:p.Pro2655=
XR_925644.2:n.9182A>C
NM_001384732.1:c.8958A>C MANE Select NP_001371661.1:p.Pro2986=
NM_023073.4:c.8796A>C NP_075561.3:p.Pro2932=