Canonical Allele Identifier: CA359498396

Gene: CPLANE1

Linked Data

• ClinVar Variation Id: 537711
• ClinVar RCV Id: RCV000646712
• dbSNP Id: rs1345413118
• MyVariant Identifiers: chr5:g.37125357T>A (hg19) ; chr5:g.37125255T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37125255T>A , CM000667.2:g.37125255T>A	GRCh38
NC_000005.9:g.37125357T>A , CM000667.1:g.37125357T>A	GRCh37
NC_000005.8:g.37161114T>A	NCBI36
NG_032772.1:g.129174A>T
NG_032772.2:g.129174A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1946A>T
ENST00000651892.2:c.8947A>T MANE Select	ENSP00000498265.2:p.Arg2983Ter
ENST00000676160.1:n.808A>T
ENST00000425232.6:c.8785A>T	ENSP00000389014.2:p.Arg2929Ter
ENST00000508244.5:c.8785A>T	ENSP00000421690.1:p.Arg2929Ter
ENST00000509849.5:c.5959A>T	ENSP00000426337.1:n.5959A>T
ENST00000509957.5:n.4128A>T
ENST00000512288.5:n.342-3471A>T
ENST00000514429.5:c.5983A>T	ENSP00000424223.1:p.Arg1995Ter
NM_023073.3:c.8785A>T	NP_075561.3:p.Arg2929Ter
XM_005248345.2:c.8947A>T	XP_005248402.1:p.Arg2983Ter
XM_005248346.2:c.8944A>T	XP_005248403.1:p.Arg2982Ter
XM_005248347.2:c.8944A>T	XP_005248404.1:p.Arg2982Ter
XM_005248349.2:c.8836A>T	XP_005248406.1:p.Arg2946Ter
XM_005248350.2:c.8818A>T	XP_005248407.1:p.Arg2940Ter
XM_005248353.3:c.5590A>T	XP_005248410.1:p.Arg1864Ter
XM_006714489.2:c.8947A>T	XP_006714552.1:p.Arg2983Ter
XM_006714491.2:c.3520A>T	XP_006714554.1:p.Arg1174Ter
XM_011514085.1:c.8947A>T	XP_011512387.1:p.Arg2983Ter
XM_011514086.1:c.8947A>T	XP_011512388.1:p.Arg2983Ter
XM_011514087.1:c.8893A>T	XP_011512389.1:p.Arg2965Ter
XM_011514088.1:c.8839A>T	XP_011512390.1:p.Arg2947Ter
XM_011514089.1:c.8947A>T	XP_011512391.1:p.Arg2983Ter
XM_011514090.1:c.8629A>T	XP_011512392.1:p.Arg2877Ter
XM_011514091.1:c.8275A>T	XP_011512393.1:p.Arg2759Ter
XM_011514092.1:c.8947A>T	XP_011512394.1:p.Arg2983Ter
XM_011514094.1:c.6172A>T	XP_011512396.1:p.Arg2058Ter
XR_427661.2:n.9122A>T
XR_925644.1:n.9122A>T
XM_005248345.4:c.8947A>T	XP_005248402.1:p.Arg2983Ter
XM_005248346.4:c.8944A>T	XP_005248403.1:p.Arg2982Ter
XM_005248347.4:c.8944A>T	XP_005248404.1:p.Arg2982Ter
XM_005248349.4:c.8836A>T	XP_005248406.1:p.Arg2946Ter
XM_005248350.4:c.8818A>T	XP_005248407.1:p.Arg2940Ter
XM_006714491.3:c.3520A>T	XP_006714554.1:p.Arg1174Ter
XM_011514085.3:c.8947A>T	XP_011512387.1:p.Arg2983Ter
XM_011514086.3:c.8947A>T	XP_011512388.1:p.Arg2983Ter
XM_011514087.2:c.8893A>T	XP_011512389.1:p.Arg2965Ter
XM_011514088.2:c.8839A>T	XP_011512390.1:p.Arg2947Ter
XM_011514089.2:c.8947A>T	XP_011512391.1:p.Arg2983Ter
XM_011514090.3:c.8629A>T	XP_011512392.1:p.Arg2877Ter
XM_011514092.2:c.8947A>T	XP_011512394.1:p.Arg2983Ter
XM_011514094.2:c.6172A>T	XP_011512396.1:p.Arg2058Ter
XM_017009760.1:c.8758A>T	XP_016865249.1:p.Arg2920Ter
XM_017009761.2:c.8758A>T	XP_016865250.1:p.Arg2920Ter
XM_017009763.1:c.7954A>T	XP_016865252.1:p.Arg2652Ter
XM_017009765.1:c.7759A>T	XP_016865254.1:p.Arg2587Ter
XM_017009766.1:c.5590A>T	XP_016865255.1:p.Arg1864Ter
XM_024446183.1:c.8758A>T	XP_024301951.1:p.Arg2920Ter
XM_024446184.1:c.8629A>T	XP_024301952.1:p.Arg2877Ter
XM_024446185.1:c.8275A>T	XP_024301953.1:p.Arg2759Ter
XM_024446186.1:c.7954A>T	XP_024301954.1:p.Arg2652Ter
XR_925644.2:n.9171A>T
NM_001384732.1:c.8947A>T MANE Select	NP_001371661.1:p.Arg2983Ter
NM_023073.4:c.8785A>T	NP_075561.3:p.Arg2929Ter