Canonical Allele Identifier: CA359497089

Gene: CPLANE1

Linked Data

• COSMIC: COSM482787 ; COSM482788
• MyVariant Identifiers: chr5:g.37122589A>G (hg19) ; chr5:g.37122487A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37122487A>G , CM000667.2:g.37122487A>G	GRCh38
NC_000005.9:g.37122589A>G , CM000667.1:g.37122589A>G	GRCh37
NC_000005.8:g.37158346A>G	NCBI36
NG_032772.1:g.131942T>C
NG_032772.2:g.131942T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651892.2:c.8960T>C MANE Select	ENSP00000498265.2:p.Leu2987Pro
ENST00000676160.1:n.821T>C
ENST00000425232.6:c.8798T>C	ENSP00000389014.2:p.Leu2933Pro
ENST00000508244.5:c.8798T>C	ENSP00000421690.1:p.Leu2933Pro
ENST00000509849.5:c.5972T>C	ENSP00000426337.1:n.5972T>C
ENST00000512288.5:n.342-703T>C
ENST00000514429.5:c.5996T>C	ENSP00000424223.1:p.Leu1999Pro
NM_023073.3:c.8798T>C	NP_075561.3:p.Leu2933Pro
XM_005248345.2:c.8960T>C	XP_005248402.1:p.Leu2987Pro
XM_005248346.2:c.8957T>C	XP_005248403.1:p.Leu2986Pro
XM_005248347.2:c.8957T>C	XP_005248404.1:p.Leu2986Pro
XM_005248349.2:c.8849T>C	XP_005248406.1:p.Leu2950Pro
XM_005248350.2:c.8831T>C	XP_005248407.1:p.Leu2944Pro
XM_005248353.3:c.5603T>C	XP_005248410.1:p.Leu1868Pro
XM_006714489.2:c.8960T>C	XP_006714552.1:p.Leu2987Pro
XM_006714491.2:c.3533T>C	XP_006714554.1:p.Leu1178Pro
XM_011514085.1:c.8960T>C	XP_011512387.1:p.Leu2987Pro
XM_011514086.1:c.8960T>C	XP_011512388.1:p.Leu2987Pro
XM_011514087.1:c.8906T>C	XP_011512389.1:p.Leu2969Pro
XM_011514088.1:c.8852T>C	XP_011512390.1:p.Leu2951Pro
XM_011514089.1:c.8960T>C	XP_011512391.1:p.Leu2987Pro
XM_011514090.1:c.8642T>C	XP_011512392.1:p.Leu2881Pro
XM_011514091.1:c.8288T>C	XP_011512393.1:p.Leu2763Pro
XM_011514092.1:c.8960T>C	XP_011512394.1:p.Leu2987Pro
XM_011514094.1:c.6185T>C	XP_011512396.1:p.Leu2062Pro
XR_427661.2:n.9135T>C
XR_925644.1:n.9135T>C
XM_005248345.4:c.8960T>C	XP_005248402.1:p.Leu2987Pro
XM_005248346.4:c.8957T>C	XP_005248403.1:p.Leu2986Pro
XM_005248347.4:c.8957T>C	XP_005248404.1:p.Leu2986Pro
XM_005248349.4:c.8849T>C	XP_005248406.1:p.Leu2950Pro
XM_005248350.4:c.8831T>C	XP_005248407.1:p.Leu2944Pro
XM_006714491.3:c.3533T>C	XP_006714554.1:p.Leu1178Pro
XM_011514085.3:c.8960T>C	XP_011512387.1:p.Leu2987Pro
XM_011514086.3:c.8960T>C	XP_011512388.1:p.Leu2987Pro
XM_011514087.2:c.8906T>C	XP_011512389.1:p.Leu2969Pro
XM_011514088.2:c.8852T>C	XP_011512390.1:p.Leu2951Pro
XM_011514089.2:c.8960T>C	XP_011512391.1:p.Leu2987Pro
XM_011514090.3:c.8642T>C	XP_011512392.1:p.Leu2881Pro
XM_011514092.2:c.8960T>C	XP_011512394.1:p.Leu2987Pro
XM_011514094.2:c.6185T>C	XP_011512396.1:p.Leu2062Pro
XM_017009760.1:c.8771T>C	XP_016865249.1:p.Leu2924Pro
XM_017009761.2:c.8771T>C	XP_016865250.1:p.Leu2924Pro
XM_017009763.1:c.7967T>C	XP_016865252.1:p.Leu2656Pro
XM_017009765.1:c.7772T>C	XP_016865254.1:p.Leu2591Pro
XM_017009766.1:c.5603T>C	XP_016865255.1:p.Leu1868Pro
XM_024446183.1:c.8771T>C	XP_024301951.1:p.Leu2924Pro
XM_024446184.1:c.8642T>C	XP_024301952.1:p.Leu2881Pro
XM_024446185.1:c.8288T>C	XP_024301953.1:p.Leu2763Pro
XM_024446186.1:c.7967T>C	XP_024301954.1:p.Leu2656Pro
XR_925644.2:n.9184T>C
NM_001384732.1:c.8960T>C MANE Select	NP_001371661.1:p.Leu2987Pro
NM_023073.4:c.8798T>C	NP_075561.3:p.Leu2933Pro