Canonical Allele Identifier: CA359499754

Gene: CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37125483G>C (hg19) ; chr5:g.37125381G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37125381G>C , CM000667.2:g.37125381G>C	GRCh38
NC_000005.9:g.37125483G>C , CM000667.1:g.37125483G>C	GRCh37
NC_000005.8:g.37161240G>C	NCBI36
NG_032772.1:g.129048C>G
NG_032772.2:g.129048C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1820C>G
ENST00000651892.2:c.8821C>G MANE Select	ENSP00000498265.2:p.Gln2941Glu
ENST00000676160.1:n.682C>G
ENST00000425232.6:c.8659C>G	ENSP00000389014.2:p.Gln2887Glu
ENST00000508244.5:c.8659C>G	ENSP00000421690.1:p.Gln2887Glu
ENST00000509849.5:c.5833C>G	ENSP00000426337.1:n.5833C>G
ENST00000509957.5:n.4002C>G
ENST00000512288.5:n.342-3597C>G
ENST00000514429.5:c.5857C>G	ENSP00000424223.1:p.Gln1953Glu
NM_023073.3:c.8659C>G	NP_075561.3:p.Gln2887Glu
XM_005248345.2:c.8821C>G	XP_005248402.1:p.Gln2941Glu
XM_005248346.2:c.8818C>G	XP_005248403.1:p.Gln2940Glu
XM_005248347.2:c.8818C>G	XP_005248404.1:p.Gln2940Glu
XM_005248349.2:c.8710C>G	XP_005248406.1:p.Gln2904Glu
XM_005248350.2:c.8692C>G	XP_005248407.1:p.Gln2898Glu
XM_005248353.3:c.5464C>G	XP_005248410.1:p.Gln1822Glu
XM_006714489.2:c.8821C>G	XP_006714552.1:p.Gln2941Glu
XM_006714491.2:c.3394C>G	XP_006714554.1:p.Gln1132Glu
XM_011514085.1:c.8821C>G	XP_011512387.1:p.Gln2941Glu
XM_011514086.1:c.8821C>G	XP_011512388.1:p.Gln2941Glu
XM_011514087.1:c.8767C>G	XP_011512389.1:p.Gln2923Glu
XM_011514088.1:c.8713C>G	XP_011512390.1:p.Gln2905Glu
XM_011514089.1:c.8821C>G	XP_011512391.1:p.Gln2941Glu
XM_011514090.1:c.8503C>G	XP_011512392.1:p.Gln2835Glu
XM_011514091.1:c.8149C>G	XP_011512393.1:p.Gln2717Glu
XM_011514092.1:c.8821C>G	XP_011512394.1:p.Gln2941Glu
XM_011514094.1:c.6046C>G	XP_011512396.1:p.Gln2016Glu
XR_427661.2:n.8996C>G
XR_925644.1:n.8996C>G
XM_005248345.4:c.8821C>G	XP_005248402.1:p.Gln2941Glu
XM_005248346.4:c.8818C>G	XP_005248403.1:p.Gln2940Glu
XM_005248347.4:c.8818C>G	XP_005248404.1:p.Gln2940Glu
XM_005248349.4:c.8710C>G	XP_005248406.1:p.Gln2904Glu
XM_005248350.4:c.8692C>G	XP_005248407.1:p.Gln2898Glu
XM_006714491.3:c.3394C>G	XP_006714554.1:p.Gln1132Glu
XM_011514085.3:c.8821C>G	XP_011512387.1:p.Gln2941Glu
XM_011514086.3:c.8821C>G	XP_011512388.1:p.Gln2941Glu
XM_011514087.2:c.8767C>G	XP_011512389.1:p.Gln2923Glu
XM_011514088.2:c.8713C>G	XP_011512390.1:p.Gln2905Glu
XM_011514089.2:c.8821C>G	XP_011512391.1:p.Gln2941Glu
XM_011514090.3:c.8503C>G	XP_011512392.1:p.Gln2835Glu
XM_011514092.2:c.8821C>G	XP_011512394.1:p.Gln2941Glu
XM_011514094.2:c.6046C>G	XP_011512396.1:p.Gln2016Glu
XM_017009760.1:c.8632C>G	XP_016865249.1:p.Gln2878Glu
XM_017009761.2:c.8632C>G	XP_016865250.1:p.Gln2878Glu
XM_017009763.1:c.7828C>G	XP_016865252.1:p.Gln2610Glu
XM_017009765.1:c.7633C>G	XP_016865254.1:p.Gln2545Glu
XM_017009766.1:c.5464C>G	XP_016865255.1:p.Gln1822Glu
XM_024446183.1:c.8632C>G	XP_024301951.1:p.Gln2878Glu
XM_024446184.1:c.8503C>G	XP_024301952.1:p.Gln2835Glu
XM_024446185.1:c.8149C>G	XP_024301953.1:p.Gln2717Glu
XM_024446186.1:c.7828C>G	XP_024301954.1:p.Gln2610Glu
XR_001742208.1:n.8990C>G
XR_925644.2:n.9045C>G
NM_001384732.1:c.8821C>G MANE Select	NP_001371661.1:p.Gln2941Glu
NM_023073.4:c.8659C>G	NP_075561.3:p.Gln2887Glu