Canonical Allele Identifier: CA3237849

Gene: CPLANE1

Linked Data

• ClinVar Variation Id: 261676
• ClinVar RCV Id: RCV000250100 ; RCV000946041 ; RCV001153647
• dbSNP Id: rs201122718
• ExAC: 5:37154040 T / G
• gnomAD v2: 5-37154040-T-G
• gnomAD v3: 5-37153938-T-G
• gnomAD v4: 5-37153938-T-G
• MyVariant Identifiers: chr5:g.37154040T>G (hg19) ; chr5:g.37153938T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153938T>G , CM000667.2:g.37153938T>G	GRCh38
NC_000005.9:g.37154040T>G , CM000667.1:g.37154040T>G	GRCh37
NC_000005.8:g.37189797T>G	NCBI36
NG_032772.1:g.100491A>C
NG_032772.2:g.100491A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1174A>C
ENST00000651892.2:c.8175A>C MANE Select	ENSP00000498265.2:p.Ala2725=
ENST00000425232.6:c.8013A>C	ENSP00000389014.2:p.Ala2671=
ENST00000508244.5:c.8013A>C	ENSP00000421690.1:p.Ala2671=
ENST00000509849.5:c.5187A>C	ENSP00000426337.1:p.Ala1729=
ENST00000509957.5:n.417A>C
ENST00000511210.5:n.466A>C
ENST00000511824.2:c.1289A>C
ENST00000514429.5:c.5211A>C	ENSP00000424223.1:p.Ala1737=
ENST00000515380.1:n.427A>C
NM_023073.3:c.8013A>C	NP_075561.3:p.Ala2671=
XM_005248345.2:c.8175A>C	XP_005248402.1:p.Ala2725=
XM_005248346.2:c.8172A>C	XP_005248403.1:p.Ala2724=
XM_005248347.2:c.8172A>C	XP_005248404.1:p.Ala2724=
XM_005248349.2:c.8064A>C	XP_005248406.1:p.Ala2688=
XM_005248350.2:c.8046A>C	XP_005248407.1:p.Ala2682=
XM_005248353.3:c.4818A>C	XP_005248410.1:p.Ala1606=
XM_006714489.2:c.8175A>C	XP_006714552.1:p.Ala2725=
XM_006714491.2:c.2748A>C	XP_006714554.1:p.Ala916=
XM_011514085.1:c.8175A>C	XP_011512387.1:p.Ala2725=
XM_011514086.1:c.8175A>C	XP_011512388.1:p.Ala2725=
XM_011514087.1:c.8121A>C	XP_011512389.1:p.Ala2707=
XM_011514088.1:c.8067A>C	XP_011512390.1:p.Ala2689=
XM_011514089.1:c.8175A>C	XP_011512391.1:p.Ala2725=
XM_011514090.1:c.7857A>C	XP_011512392.1:p.Ala2619=
XM_011514091.1:c.7503A>C	XP_011512393.1:p.Ala2501=
XM_011514092.1:c.8175A>C	XP_011512394.1:p.Ala2725=
XM_011514094.1:c.5400A>C	XP_011512396.1:p.Ala1800=
XR_427661.2:n.8350A>C
XR_925644.1:n.8350A>C
XM_005248345.4:c.8175A>C	XP_005248402.1:p.Ala2725=
XM_005248346.4:c.8172A>C	XP_005248403.1:p.Ala2724=
XM_005248347.4:c.8172A>C	XP_005248404.1:p.Ala2724=
XM_005248349.4:c.8064A>C	XP_005248406.1:p.Ala2688=
XM_005248350.4:c.8046A>C	XP_005248407.1:p.Ala2682=
XM_006714491.3:c.2748A>C	XP_006714554.1:p.Ala916=
XM_011514085.3:c.8175A>C	XP_011512387.1:p.Ala2725=
XM_011514086.3:c.8175A>C	XP_011512388.1:p.Ala2725=
XM_011514087.2:c.8121A>C	XP_011512389.1:p.Ala2707=
XM_011514088.2:c.8067A>C	XP_011512390.1:p.Ala2689=
XM_011514089.2:c.8175A>C	XP_011512391.1:p.Ala2725=
XM_011514090.3:c.7857A>C	XP_011512392.1:p.Ala2619=
XM_011514092.2:c.8175A>C	XP_011512394.1:p.Ala2725=
XM_011514094.2:c.5400A>C	XP_011512396.1:p.Ala1800=
XM_017009760.1:c.7986A>C	XP_016865249.1:p.Ala2662=
XM_017009761.2:c.7986A>C	XP_016865250.1:p.Ala2662=
XM_017009763.1:c.7182A>C	XP_016865252.1:p.Ala2394=
XM_017009765.1:c.6987A>C	XP_016865254.1:p.Ala2329=
XM_017009766.1:c.4818A>C	XP_016865255.1:p.Ala1606=
XM_024446183.1:c.7986A>C	XP_024301951.1:p.Ala2662=
XM_024446184.1:c.7857A>C	XP_024301952.1:p.Ala2619=
XM_024446185.1:c.7503A>C	XP_024301953.1:p.Ala2501=
XM_024446186.1:c.7182A>C	XP_024301954.1:p.Ala2394=
XR_001742208.1:n.8344A>C
XR_002956171.1:n.8290A>C
XR_925644.2:n.8399A>C
NM_001384732.1:c.8175A>C MANE Select	NP_001371661.1:p.Ala2725=
NM_023073.4:c.8013A>C	NP_075561.3:p.Ala2671=