Canonical Allele Identifier: CA359499905

Gene: CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37125497G>A (hg19) ; chr5:g.37125395G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37125395G>A , CM000667.2:g.37125395G>A	GRCh38
NC_000005.9:g.37125497G>A , CM000667.1:g.37125497G>A	GRCh37
NC_000005.8:g.37161254G>A	NCBI36
NG_032772.1:g.129034C>T
NG_032772.2:g.129034C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1806C>T
ENST00000651892.2:c.8807C>T MANE Select	ENSP00000498265.2:p.Ser2936Phe
ENST00000676160.1:n.668C>T
ENST00000425232.6:c.8645C>T	ENSP00000389014.2:p.Ser2882Phe
ENST00000508244.5:c.8645C>T	ENSP00000421690.1:p.Ser2882Phe
ENST00000509849.5:c.5819C>T	ENSP00000426337.1:n.5819C>T
ENST00000509957.5:n.3988C>T
ENST00000512288.5:n.342-3611C>T
ENST00000514429.5:c.5843C>T	ENSP00000424223.1:p.Ser1948Phe
NM_023073.3:c.8645C>T	NP_075561.3:p.Ser2882Phe
XM_005248345.2:c.8807C>T	XP_005248402.1:p.Ser2936Phe
XM_005248346.2:c.8804C>T	XP_005248403.1:p.Ser2935Phe
XM_005248347.2:c.8804C>T	XP_005248404.1:p.Ser2935Phe
XM_005248349.2:c.8696C>T	XP_005248406.1:p.Ser2899Phe
XM_005248350.2:c.8678C>T	XP_005248407.1:p.Ser2893Phe
XM_005248353.3:c.5450C>T	XP_005248410.1:p.Ser1817Phe
XM_006714489.2:c.8807C>T	XP_006714552.1:p.Ser2936Phe
XM_006714491.2:c.3380C>T	XP_006714554.1:p.Ser1127Phe
XM_011514085.1:c.8807C>T	XP_011512387.1:p.Ser2936Phe
XM_011514086.1:c.8807C>T	XP_011512388.1:p.Ser2936Phe
XM_011514087.1:c.8753C>T	XP_011512389.1:p.Ser2918Phe
XM_011514088.1:c.8699C>T	XP_011512390.1:p.Ser2900Phe
XM_011514089.1:c.8807C>T	XP_011512391.1:p.Ser2936Phe
XM_011514090.1:c.8489C>T	XP_011512392.1:p.Ser2830Phe
XM_011514091.1:c.8135C>T	XP_011512393.1:p.Ser2712Phe
XM_011514092.1:c.8807C>T	XP_011512394.1:p.Ser2936Phe
XM_011514094.1:c.6032C>T	XP_011512396.1:p.Ser2011Phe
XR_427661.2:n.8982C>T
XR_925644.1:n.8982C>T
XM_005248345.4:c.8807C>T	XP_005248402.1:p.Ser2936Phe
XM_005248346.4:c.8804C>T	XP_005248403.1:p.Ser2935Phe
XM_005248347.4:c.8804C>T	XP_005248404.1:p.Ser2935Phe
XM_005248349.4:c.8696C>T	XP_005248406.1:p.Ser2899Phe
XM_005248350.4:c.8678C>T	XP_005248407.1:p.Ser2893Phe
XM_006714491.3:c.3380C>T	XP_006714554.1:p.Ser1127Phe
XM_011514085.3:c.8807C>T	XP_011512387.1:p.Ser2936Phe
XM_011514086.3:c.8807C>T	XP_011512388.1:p.Ser2936Phe
XM_011514087.2:c.8753C>T	XP_011512389.1:p.Ser2918Phe
XM_011514088.2:c.8699C>T	XP_011512390.1:p.Ser2900Phe
XM_011514089.2:c.8807C>T	XP_011512391.1:p.Ser2936Phe
XM_011514090.3:c.8489C>T	XP_011512392.1:p.Ser2830Phe
XM_011514092.2:c.8807C>T	XP_011512394.1:p.Ser2936Phe
XM_011514094.2:c.6032C>T	XP_011512396.1:p.Ser2011Phe
XM_017009760.1:c.8618C>T	XP_016865249.1:p.Ser2873Phe
XM_017009761.2:c.8618C>T	XP_016865250.1:p.Ser2873Phe
XM_017009763.1:c.7814C>T	XP_016865252.1:p.Ser2605Phe
XM_017009765.1:c.7619C>T	XP_016865254.1:p.Ser2540Phe
XM_017009766.1:c.5450C>T	XP_016865255.1:p.Ser1817Phe
XM_024446183.1:c.8618C>T	XP_024301951.1:p.Ser2873Phe
XM_024446184.1:c.8489C>T	XP_024301952.1:p.Ser2830Phe
XM_024446185.1:c.8135C>T	XP_024301953.1:p.Ser2712Phe
XM_024446186.1:c.7814C>T	XP_024301954.1:p.Ser2605Phe
XR_001742208.1:n.8976C>T
XR_925644.2:n.9031C>T
NM_001384732.1:c.8807C>T MANE Select	NP_001371661.1:p.Ser2936Phe
NM_023073.4:c.8645C>T	NP_075561.3:p.Ser2882Phe