Canonical Allele Identifier: CA359473654

Gene: CPLANE1

Linked Data

• dbSNP Id: rs1469286509
• gnomAD v2: 5-37153872-C-A
• gnomAD v4: 5-37153770-C-A
• MyVariant Identifiers: chr5:g.37153872C>A (hg19) ; chr5:g.37153770C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153770C>A , CM000667.2:g.37153770C>A	GRCh38
NC_000005.9:g.37153872C>A , CM000667.1:g.37153872C>A	GRCh37
NC_000005.8:g.37189629C>A	NCBI36
NG_032772.1:g.100659G>T
NG_032772.2:g.100659G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1342G>T
ENST00000651892.2:c.8343G>T MANE Select	ENSP00000498265.2:p.Lys2781Asn
ENST00000425232.6:c.8181G>T	ENSP00000389014.2:p.Lys2727Asn
ENST00000508244.5:c.8181G>T	ENSP00000421690.1:p.Lys2727Asn
ENST00000508405.1:n.75G>T
ENST00000509849.5:c.5355G>T	ENSP00000426337.1:p.Lys1785Asn
ENST00000509957.5:n.585G>T
ENST00000511824.2:c.1457G>T
ENST00000514429.5:c.5379G>T	ENSP00000424223.1:p.Lys1793Asn
NM_023073.3:c.8181G>T	NP_075561.3:p.Lys2727Asn
XM_005248345.2:c.8343G>T	XP_005248402.1:p.Lys2781Asn
XM_005248346.2:c.8340G>T	XP_005248403.1:p.Lys2780Asn
XM_005248347.2:c.8340G>T	XP_005248404.1:p.Lys2780Asn
XM_005248349.2:c.8232G>T	XP_005248406.1:p.Lys2744Asn
XM_005248350.2:c.8214G>T	XP_005248407.1:p.Lys2738Asn
XM_005248353.3:c.4986G>T	XP_005248410.1:p.Lys1662Asn
XM_006714489.2:c.8343G>T	XP_006714552.1:p.Lys2781Asn
XM_006714491.2:c.2916G>T	XP_006714554.1:p.Lys972Asn
XM_011514085.1:c.8343G>T	XP_011512387.1:p.Lys2781Asn
XM_011514086.1:c.8343G>T	XP_011512388.1:p.Lys2781Asn
XM_011514087.1:c.8289G>T	XP_011512389.1:p.Lys2763Asn
XM_011514088.1:c.8235G>T	XP_011512390.1:p.Lys2745Asn
XM_011514089.1:c.8343G>T	XP_011512391.1:p.Lys2781Asn
XM_011514090.1:c.8025G>T	XP_011512392.1:p.Lys2675Asn
XM_011514091.1:c.7671G>T	XP_011512393.1:p.Lys2557Asn
XM_011514092.1:c.8343G>T	XP_011512394.1:p.Lys2781Asn
XM_011514094.1:c.5568G>T	XP_011512396.1:p.Lys1856Asn
XR_427661.2:n.8518G>T
XR_925644.1:n.8518G>T
XM_005248345.4:c.8343G>T	XP_005248402.1:p.Lys2781Asn
XM_005248346.4:c.8340G>T	XP_005248403.1:p.Lys2780Asn
XM_005248347.4:c.8340G>T	XP_005248404.1:p.Lys2780Asn
XM_005248349.4:c.8232G>T	XP_005248406.1:p.Lys2744Asn
XM_005248350.4:c.8214G>T	XP_005248407.1:p.Lys2738Asn
XM_006714491.3:c.2916G>T	XP_006714554.1:p.Lys972Asn
XM_011514085.3:c.8343G>T	XP_011512387.1:p.Lys2781Asn
XM_011514086.3:c.8343G>T	XP_011512388.1:p.Lys2781Asn
XM_011514087.2:c.8289G>T	XP_011512389.1:p.Lys2763Asn
XM_011514088.2:c.8235G>T	XP_011512390.1:p.Lys2745Asn
XM_011514089.2:c.8343G>T	XP_011512391.1:p.Lys2781Asn
XM_011514090.3:c.8025G>T	XP_011512392.1:p.Lys2675Asn
XM_011514092.2:c.8343G>T	XP_011512394.1:p.Lys2781Asn
XM_011514094.2:c.5568G>T	XP_011512396.1:p.Lys1856Asn
XM_017009760.1:c.8154G>T	XP_016865249.1:p.Lys2718Asn
XM_017009761.2:c.8154G>T	XP_016865250.1:p.Lys2718Asn
XM_017009763.1:c.7350G>T	XP_016865252.1:p.Lys2450Asn
XM_017009765.1:c.7155G>T	XP_016865254.1:p.Lys2385Asn
XM_017009766.1:c.4986G>T	XP_016865255.1:p.Lys1662Asn
XM_024446183.1:c.8154G>T	XP_024301951.1:p.Lys2718Asn
XM_024446184.1:c.8025G>T	XP_024301952.1:p.Lys2675Asn
XM_024446185.1:c.7671G>T	XP_024301953.1:p.Lys2557Asn
XM_024446186.1:c.7350G>T	XP_024301954.1:p.Lys2450Asn
XR_001742208.1:n.8512G>T
XR_002956171.1:n.8458G>T
XR_925644.2:n.8567G>T
NM_001384732.1:c.8343G>T MANE Select	NP_001371661.1:p.Lys2781Asn
NM_023073.4:c.8181G>T	NP_075561.3:p.Lys2727Asn