Canonical Allele Identifier: CA444096694

Gene: CPLANE1

Linked Data

• ClinVar Variation Id: 2077718
• ClinVar RCV Id: RCV002976642
• dbSNP Id: rs1774265936
• gnomAD v3: 5-37153857-C-T
• gnomAD v4: 5-37153857-C-T
• MyVariant Identifiers: chr5:g.37153959C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153857C>T , CM000667.2:g.37153857C>T	GRCh38
NC_000005.9:g.37153959C>T , CM000667.1:g.37153959C>T	GRCh37
NC_000005.8:g.37189716C>T	NCBI36
NG_032772.1:g.100572G>A
NG_032772.2:g.100572G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1255G>A
ENST00000651892.2:c.8256G>A MANE Select	ENSP00000498265.2:p.Glu2752=
ENST00000425232.6:c.8094G>A	ENSP00000389014.2:p.Glu2698=
ENST00000508244.5:c.8094G>A	ENSP00000421690.1:p.Glu2698=
ENST00000509849.5:c.5268G>A	ENSP00000426337.1:p.Glu1756=
ENST00000509957.5:n.498G>A
ENST00000511824.2:c.1370G>A
ENST00000514429.5:c.5292G>A	ENSP00000424223.1:p.Glu1764=
NM_023073.3:c.8094G>A	NP_075561.3:p.Glu2698=
XM_005248345.2:c.8256G>A	XP_005248402.1:p.Glu2752=
XM_005248346.2:c.8253G>A	XP_005248403.1:p.Glu2751=
XM_005248347.2:c.8253G>A	XP_005248404.1:p.Glu2751=
XM_005248349.2:c.8145G>A	XP_005248406.1:p.Glu2715=
XM_005248350.2:c.8127G>A	XP_005248407.1:p.Glu2709=
XM_005248353.3:c.4899G>A	XP_005248410.1:p.Glu1633=
XM_006714489.2:c.8256G>A	XP_006714552.1:p.Glu2752=
XM_006714491.2:c.2829G>A	XP_006714554.1:p.Glu943=
XM_011514085.1:c.8256G>A	XP_011512387.1:p.Glu2752=
XM_011514086.1:c.8256G>A	XP_011512388.1:p.Glu2752=
XM_011514087.1:c.8202G>A	XP_011512389.1:p.Glu2734=
XM_011514088.1:c.8148G>A	XP_011512390.1:p.Glu2716=
XM_011514089.1:c.8256G>A	XP_011512391.1:p.Glu2752=
XM_011514090.1:c.7938G>A	XP_011512392.1:p.Glu2646=
XM_011514091.1:c.7584G>A	XP_011512393.1:p.Glu2528=
XM_011514092.1:c.8256G>A	XP_011512394.1:p.Glu2752=
XM_011514094.1:c.5481G>A	XP_011512396.1:p.Glu1827=
XR_427661.2:n.8431G>A
XR_925644.1:n.8431G>A
XM_005248345.4:c.8256G>A	XP_005248402.1:p.Glu2752=
XM_005248346.4:c.8253G>A	XP_005248403.1:p.Glu2751=
XM_005248347.4:c.8253G>A	XP_005248404.1:p.Glu2751=
XM_005248349.4:c.8145G>A	XP_005248406.1:p.Glu2715=
XM_005248350.4:c.8127G>A	XP_005248407.1:p.Glu2709=
XM_006714491.3:c.2829G>A	XP_006714554.1:p.Glu943=
XM_011514085.3:c.8256G>A	XP_011512387.1:p.Glu2752=
XM_011514086.3:c.8256G>A	XP_011512388.1:p.Glu2752=
XM_011514087.2:c.8202G>A	XP_011512389.1:p.Glu2734=
XM_011514088.2:c.8148G>A	XP_011512390.1:p.Glu2716=
XM_011514089.2:c.8256G>A	XP_011512391.1:p.Glu2752=
XM_011514090.3:c.7938G>A	XP_011512392.1:p.Glu2646=
XM_011514092.2:c.8256G>A	XP_011512394.1:p.Glu2752=
XM_011514094.2:c.5481G>A	XP_011512396.1:p.Glu1827=
XM_017009760.1:c.8067G>A	XP_016865249.1:p.Glu2689=
XM_017009761.2:c.8067G>A	XP_016865250.1:p.Glu2689=
XM_017009763.1:c.7263G>A	XP_016865252.1:p.Glu2421=
XM_017009765.1:c.7068G>A	XP_016865254.1:p.Glu2356=
XM_017009766.1:c.4899G>A	XP_016865255.1:p.Glu1633=
XM_024446183.1:c.8067G>A	XP_024301951.1:p.Glu2689=
XM_024446184.1:c.7938G>A	XP_024301952.1:p.Glu2646=
XM_024446185.1:c.7584G>A	XP_024301953.1:p.Glu2528=
XM_024446186.1:c.7263G>A	XP_024301954.1:p.Glu2421=
XR_001742208.1:n.8425G>A
XR_002956171.1:n.8371G>A
XR_925644.2:n.8480G>A
NM_001384732.1:c.8256G>A MANE Select	NP_001371661.1:p.Glu2752=
NM_023073.4:c.8094G>A	NP_075561.3:p.Glu2698=