Canonical Allele Identifier: CA359499699

Gene: CPLANE1

Linked Data

• gnomAD v4: 5-37125374-G-C
• MyVariant Identifiers: chr5:g.37125476G>C (hg19) ; chr5:g.37125374G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37125374G>C , CM000667.2:g.37125374G>C	GRCh38
NC_000005.9:g.37125476G>C , CM000667.1:g.37125476G>C	GRCh37
NC_000005.8:g.37161233G>C	NCBI36
NG_032772.1:g.129055C>G
NG_032772.2:g.129055C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1827C>G
ENST00000651892.2:c.8828C>G MANE Select	ENSP00000498265.2:p.Thr2943Ser
ENST00000676160.1:n.689C>G
ENST00000425232.6:c.8666C>G	ENSP00000389014.2:p.Thr2889Ser
ENST00000508244.5:c.8666C>G	ENSP00000421690.1:p.Thr2889Ser
ENST00000509849.5:c.5840C>G	ENSP00000426337.1:n.5840C>G
ENST00000509957.5:n.4009C>G
ENST00000512288.5:n.342-3590C>G
ENST00000514429.5:c.5864C>G	ENSP00000424223.1:p.Thr1955Ser
NM_023073.3:c.8666C>G	NP_075561.3:p.Thr2889Ser
XM_005248345.2:c.8828C>G	XP_005248402.1:p.Thr2943Ser
XM_005248346.2:c.8825C>G	XP_005248403.1:p.Thr2942Ser
XM_005248347.2:c.8825C>G	XP_005248404.1:p.Thr2942Ser
XM_005248349.2:c.8717C>G	XP_005248406.1:p.Thr2906Ser
XM_005248350.2:c.8699C>G	XP_005248407.1:p.Thr2900Ser
XM_005248353.3:c.5471C>G	XP_005248410.1:p.Thr1824Ser
XM_006714489.2:c.8828C>G	XP_006714552.1:p.Thr2943Ser
XM_006714491.2:c.3401C>G	XP_006714554.1:p.Thr1134Ser
XM_011514085.1:c.8828C>G	XP_011512387.1:p.Thr2943Ser
XM_011514086.1:c.8828C>G	XP_011512388.1:p.Thr2943Ser
XM_011514087.1:c.8774C>G	XP_011512389.1:p.Thr2925Ser
XM_011514088.1:c.8720C>G	XP_011512390.1:p.Thr2907Ser
XM_011514089.1:c.8828C>G	XP_011512391.1:p.Thr2943Ser
XM_011514090.1:c.8510C>G	XP_011512392.1:p.Thr2837Ser
XM_011514091.1:c.8156C>G	XP_011512393.1:p.Thr2719Ser
XM_011514092.1:c.8828C>G	XP_011512394.1:p.Thr2943Ser
XM_011514094.1:c.6053C>G	XP_011512396.1:p.Thr2018Ser
XR_427661.2:n.9003C>G
XR_925644.1:n.9003C>G
XM_005248345.4:c.8828C>G	XP_005248402.1:p.Thr2943Ser
XM_005248346.4:c.8825C>G	XP_005248403.1:p.Thr2942Ser
XM_005248347.4:c.8825C>G	XP_005248404.1:p.Thr2942Ser
XM_005248349.4:c.8717C>G	XP_005248406.1:p.Thr2906Ser
XM_005248350.4:c.8699C>G	XP_005248407.1:p.Thr2900Ser
XM_006714491.3:c.3401C>G	XP_006714554.1:p.Thr1134Ser
XM_011514085.3:c.8828C>G	XP_011512387.1:p.Thr2943Ser
XM_011514086.3:c.8828C>G	XP_011512388.1:p.Thr2943Ser
XM_011514087.2:c.8774C>G	XP_011512389.1:p.Thr2925Ser
XM_011514088.2:c.8720C>G	XP_011512390.1:p.Thr2907Ser
XM_011514089.2:c.8828C>G	XP_011512391.1:p.Thr2943Ser
XM_011514090.3:c.8510C>G	XP_011512392.1:p.Thr2837Ser
XM_011514092.2:c.8828C>G	XP_011512394.1:p.Thr2943Ser
XM_011514094.2:c.6053C>G	XP_011512396.1:p.Thr2018Ser
XM_017009760.1:c.8639C>G	XP_016865249.1:p.Thr2880Ser
XM_017009761.2:c.8639C>G	XP_016865250.1:p.Thr2880Ser
XM_017009763.1:c.7835C>G	XP_016865252.1:p.Thr2612Ser
XM_017009765.1:c.7640C>G	XP_016865254.1:p.Thr2547Ser
XM_017009766.1:c.5471C>G	XP_016865255.1:p.Thr1824Ser
XM_024446183.1:c.8639C>G	XP_024301951.1:p.Thr2880Ser
XM_024446184.1:c.8510C>G	XP_024301952.1:p.Thr2837Ser
XM_024446185.1:c.8156C>G	XP_024301953.1:p.Thr2719Ser
XM_024446186.1:c.7835C>G	XP_024301954.1:p.Thr2612Ser
XR_001742208.1:n.8997C>G
XR_925644.2:n.9052C>G
NM_001384732.1:c.8828C>G MANE Select	NP_001371661.1:p.Thr2943Ser
NM_023073.4:c.8666C>G	NP_075561.3:p.Thr2889Ser