Canonical Allele Identifier: CA359498302

Gene: CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37125348G>A (hg19) ; chr5:g.37125246G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37125246G>A , CM000667.2:g.37125246G>A	GRCh38
NC_000005.9:g.37125348G>A , CM000667.1:g.37125348G>A	GRCh37
NC_000005.8:g.37161105G>A	NCBI36
NG_032772.1:g.129183C>T
NG_032772.2:g.129183C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000510830.2:n.1955C>T
ENST00000651892.2:c.8956C>T MANE Select	ENSP00000498265.2:p.Pro2986Ser
ENST00000676160.1:n.817C>T
ENST00000425232.6:c.8794C>T	ENSP00000389014.2:p.Pro2932Ser
ENST00000508244.5:c.8794C>T	ENSP00000421690.1:p.Pro2932Ser
ENST00000509849.5:c.5968C>T	ENSP00000426337.1:n.5968C>T
ENST00000509957.5:n.4137C>T
ENST00000512288.5:n.342-3462C>T
ENST00000514429.5:c.5992C>T	ENSP00000424223.1:p.Pro1998Ser
NM_023073.3:c.8794C>T	NP_075561.3:p.Pro2932Ser
XM_005248345.2:c.8956C>T	XP_005248402.1:p.Pro2986Ser
XM_005248346.2:c.8953C>T	XP_005248403.1:p.Pro2985Ser
XM_005248347.2:c.8953C>T	XP_005248404.1:p.Pro2985Ser
XM_005248349.2:c.8845C>T	XP_005248406.1:p.Pro2949Ser
XM_005248350.2:c.8827C>T	XP_005248407.1:p.Pro2943Ser
XM_005248353.3:c.5599C>T	XP_005248410.1:p.Pro1867Ser
XM_006714489.2:c.8956C>T	XP_006714552.1:p.Pro2986Ser
XM_006714491.2:c.3529C>T	XP_006714554.1:p.Pro1177Ser
XM_011514085.1:c.8956C>T	XP_011512387.1:p.Pro2986Ser
XM_011514086.1:c.8956C>T	XP_011512388.1:p.Pro2986Ser
XM_011514087.1:c.8902C>T	XP_011512389.1:p.Pro2968Ser
XM_011514088.1:c.8848C>T	XP_011512390.1:p.Pro2950Ser
XM_011514089.1:c.8956C>T	XP_011512391.1:p.Pro2986Ser
XM_011514090.1:c.8638C>T	XP_011512392.1:p.Pro2880Ser
XM_011514091.1:c.8284C>T	XP_011512393.1:p.Pro2762Ser
XM_011514092.1:c.8956C>T	XP_011512394.1:p.Pro2986Ser
XM_011514094.1:c.6181C>T	XP_011512396.1:p.Pro2061Ser
XR_427661.2:n.9131C>T
XR_925644.1:n.9131C>T
XM_005248345.4:c.8956C>T	XP_005248402.1:p.Pro2986Ser
XM_005248346.4:c.8953C>T	XP_005248403.1:p.Pro2985Ser
XM_005248347.4:c.8953C>T	XP_005248404.1:p.Pro2985Ser
XM_005248349.4:c.8845C>T	XP_005248406.1:p.Pro2949Ser
XM_005248350.4:c.8827C>T	XP_005248407.1:p.Pro2943Ser
XM_006714491.3:c.3529C>T	XP_006714554.1:p.Pro1177Ser
XM_011514085.3:c.8956C>T	XP_011512387.1:p.Pro2986Ser
XM_011514086.3:c.8956C>T	XP_011512388.1:p.Pro2986Ser
XM_011514087.2:c.8902C>T	XP_011512389.1:p.Pro2968Ser
XM_011514088.2:c.8848C>T	XP_011512390.1:p.Pro2950Ser
XM_011514089.2:c.8956C>T	XP_011512391.1:p.Pro2986Ser
XM_011514090.3:c.8638C>T	XP_011512392.1:p.Pro2880Ser
XM_011514092.2:c.8956C>T	XP_011512394.1:p.Pro2986Ser
XM_011514094.2:c.6181C>T	XP_011512396.1:p.Pro2061Ser
XM_017009760.1:c.8767C>T	XP_016865249.1:p.Pro2923Ser
XM_017009761.2:c.8767C>T	XP_016865250.1:p.Pro2923Ser
XM_017009763.1:c.7963C>T	XP_016865252.1:p.Pro2655Ser
XM_017009765.1:c.7768C>T	XP_016865254.1:p.Pro2590Ser
XM_017009766.1:c.5599C>T	XP_016865255.1:p.Pro1867Ser
XM_024446183.1:c.8767C>T	XP_024301951.1:p.Pro2923Ser
XM_024446184.1:c.8638C>T	XP_024301952.1:p.Pro2880Ser
XM_024446185.1:c.8284C>T	XP_024301953.1:p.Pro2762Ser
XM_024446186.1:c.7963C>T	XP_024301954.1:p.Pro2655Ser
XR_925644.2:n.9180C>T
NM_001384732.1:c.8956C>T MANE Select	NP_001371661.1:p.Pro2986Ser
NM_023073.4:c.8794C>T	NP_075561.3:p.Pro2932Ser