Canonical Allele Identifier: CA279425

Gene: CPLANE1

Linked Data

• ClinVar Variation Id: 217573
• ClinVar RCV Id: RCV000201623 ; RCV002515474 ; RCV003955215
• dbSNP Id: rs863225158
• MyVariant Identifiers: chr5:g.37226422G>A (hg19) ; chr5:g.37226320G>A (hg38)
• PubMed: PMID:26092869

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37226320G>A , CM000667.2:g.37226320G>A	GRCh38
NC_000005.9:g.37226422G>A , CM000667.1:g.37226422G>A	GRCh37
NC_000005.8:g.37262179G>A	NCBI36
NG_032772.1:g.28109C>T
NG_032772.2:g.28109C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425232.7:c.2008C>T
ENST00000651892.2:c.2275C>T MANE Select	ENSP00000498265.2:p.Gln759Ter
ENST00000675547.1:n.2345C>T
ENST00000676290.1:n.2350C>T
ENST00000425232.6:c.2275C>T	ENSP00000389014.2:p.Gln759Ter
ENST00000508244.5:c.2275C>T	ENSP00000421690.1:p.Gln759Ter
NM_023073.3:c.2275C>T	NP_075561.3:p.Gln759Ter
XM_005248345.2:c.2275C>T	XP_005248402.1:p.Gln759Ter
XM_005248346.2:c.2275C>T	XP_005248403.1:p.Gln759Ter
XM_005248347.2:c.2275C>T	XP_005248404.1:p.Gln759Ter
XM_005248349.2:c.2275C>T	XP_005248406.1:p.Gln759Ter
XM_005248350.2:c.2275C>T	XP_005248407.1:p.Gln759Ter
XM_006714489.2:c.2275C>T	XP_006714552.1:p.Gln759Ter
XM_011514085.1:c.2275C>T	XP_011512387.1:p.Gln759Ter
XM_011514086.1:c.2275C>T	XP_011512388.1:p.Gln759Ter
XM_011514087.1:c.2275C>T	XP_011512389.1:p.Gln759Ter
XM_011514088.1:c.2275C>T	XP_011512390.1:p.Gln759Ter
XM_011514089.1:c.2275C>T	XP_011512391.1:p.Gln759Ter
XM_011514090.1:c.1957C>T	XP_011512392.1:p.Gln653Ter
XM_011514091.1:c.1603C>T	XP_011512393.1:p.Gln535Ter
XM_011514092.1:c.2275C>T	XP_011512394.1:p.Gln759Ter
XM_011514093.1:c.2275C>T	XP_011512395.1:p.Gln759Ter
XR_427661.2:n.2450C>T
XR_925644.1:n.2450C>T
XM_005248345.4:c.2275C>T	XP_005248402.1:p.Gln759Ter
XM_005248346.4:c.2275C>T	XP_005248403.1:p.Gln759Ter
XM_005248347.4:c.2275C>T	XP_005248404.1:p.Gln759Ter
XM_005248349.4:c.2275C>T	XP_005248406.1:p.Gln759Ter
XM_005248350.4:c.2275C>T	XP_005248407.1:p.Gln759Ter
XM_011514085.3:c.2275C>T	XP_011512387.1:p.Gln759Ter
XM_011514086.3:c.2275C>T	XP_011512388.1:p.Gln759Ter
XM_011514087.2:c.2275C>T	XP_011512389.1:p.Gln759Ter
XM_011514088.2:c.2275C>T	XP_011512390.1:p.Gln759Ter
XM_011514089.2:c.2275C>T	XP_011512391.1:p.Gln759Ter
XM_011514090.3:c.1957C>T	XP_011512392.1:p.Gln653Ter
XM_011514092.2:c.2275C>T	XP_011512394.1:p.Gln759Ter
XM_017009760.1:c.2086C>T	XP_016865249.1:p.Gln696Ter
XM_017009761.2:c.2086C>T	XP_016865250.1:p.Gln696Ter
XM_017009763.1:c.1282C>T	XP_016865252.1:p.Gln428Ter
XM_017009765.1:c.1087C>T	XP_016865254.1:p.Gln363Ter
XM_024446183.1:c.2086C>T	XP_024301951.1:p.Gln696Ter
XM_024446184.1:c.1957C>T	XP_024301952.1:p.Gln653Ter
XM_024446185.1:c.1603C>T	XP_024301953.1:p.Gln535Ter
XM_024446186.1:c.1282C>T	XP_024301954.1:p.Gln428Ter
XR_001742208.1:n.2499C>T
XR_002956171.1:n.2499C>T
XR_925644.2:n.2499C>T
NM_001384732.1:c.2275C>T MANE Select	NP_001371661.1:p.Gln759Ter
NM_023073.4:c.2275C>T	NP_075561.3:p.Gln759Ter