Canonical Allele Identifier: CA359473610

Gene: CPLANE1

Linked Data

• dbSNP Id: rs1222784721
• gnomAD v3: 5-37153748-A-T
• gnomAD v4: 5-37153748-A-T
• MyVariant Identifiers: chr5:g.37153850A>T (hg19) ; chr5:g.37153748A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153748A>T , CM000667.2:g.37153748A>T	GRCh38
NC_000005.9:g.37153850A>T , CM000667.1:g.37153850A>T	GRCh37
NC_000005.8:g.37189607A>T	NCBI36
NG_032772.1:g.100681T>A
NG_032772.2:g.100681T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1364T>A
ENST00000651892.2:c.8365T>A MANE Select	ENSP00000498265.2:p.Cys2789Ser
ENST00000425232.6:c.8203T>A	ENSP00000389014.2:p.Cys2735Ser
ENST00000508244.5:c.8203T>A	ENSP00000421690.1:p.Cys2735Ser
ENST00000508405.1:n.97T>A
ENST00000509849.5:c.5377T>A	ENSP00000426337.1:p.Cys1793Ser
ENST00000509957.5:n.607T>A
ENST00000511824.2:c.1479T>A
ENST00000514429.5:c.5401T>A	ENSP00000424223.1:p.Cys1801Ser
NM_023073.3:c.8203T>A	NP_075561.3:p.Cys2735Ser
XM_005248345.2:c.8365T>A	XP_005248402.1:p.Cys2789Ser
XM_005248346.2:c.8362T>A	XP_005248403.1:p.Cys2788Ser
XM_005248347.2:c.8362T>A	XP_005248404.1:p.Cys2788Ser
XM_005248349.2:c.8254T>A	XP_005248406.1:p.Cys2752Ser
XM_005248350.2:c.8236T>A	XP_005248407.1:p.Cys2746Ser
XM_005248353.3:c.5008T>A	XP_005248410.1:p.Cys1670Ser
XM_006714489.2:c.8365T>A	XP_006714552.1:p.Cys2789Ser
XM_006714491.2:c.2938T>A	XP_006714554.1:p.Cys980Ser
XM_011514085.1:c.8365T>A	XP_011512387.1:p.Cys2789Ser
XM_011514086.1:c.8365T>A	XP_011512388.1:p.Cys2789Ser
XM_011514087.1:c.8311T>A	XP_011512389.1:p.Cys2771Ser
XM_011514088.1:c.8257T>A	XP_011512390.1:p.Cys2753Ser
XM_011514089.1:c.8365T>A	XP_011512391.1:p.Cys2789Ser
XM_011514090.1:c.8047T>A	XP_011512392.1:p.Cys2683Ser
XM_011514091.1:c.7693T>A	XP_011512393.1:p.Cys2565Ser
XM_011514092.1:c.8365T>A	XP_011512394.1:p.Cys2789Ser
XM_011514094.1:c.5590T>A	XP_011512396.1:p.Cys1864Ser
XR_427661.2:n.8540T>A
XR_925644.1:n.8540T>A
XM_005248345.4:c.8365T>A	XP_005248402.1:p.Cys2789Ser
XM_005248346.4:c.8362T>A	XP_005248403.1:p.Cys2788Ser
XM_005248347.4:c.8362T>A	XP_005248404.1:p.Cys2788Ser
XM_005248349.4:c.8254T>A	XP_005248406.1:p.Cys2752Ser
XM_005248350.4:c.8236T>A	XP_005248407.1:p.Cys2746Ser
XM_006714491.3:c.2938T>A	XP_006714554.1:p.Cys980Ser
XM_011514085.3:c.8365T>A	XP_011512387.1:p.Cys2789Ser
XM_011514086.3:c.8365T>A	XP_011512388.1:p.Cys2789Ser
XM_011514087.2:c.8311T>A	XP_011512389.1:p.Cys2771Ser
XM_011514088.2:c.8257T>A	XP_011512390.1:p.Cys2753Ser
XM_011514089.2:c.8365T>A	XP_011512391.1:p.Cys2789Ser
XM_011514090.3:c.8047T>A	XP_011512392.1:p.Cys2683Ser
XM_011514092.2:c.8365T>A	XP_011512394.1:p.Cys2789Ser
XM_011514094.2:c.5590T>A	XP_011512396.1:p.Cys1864Ser
XM_017009760.1:c.8176T>A	XP_016865249.1:p.Cys2726Ser
XM_017009761.2:c.8176T>A	XP_016865250.1:p.Cys2726Ser
XM_017009763.1:c.7372T>A	XP_016865252.1:p.Cys2458Ser
XM_017009765.1:c.7177T>A	XP_016865254.1:p.Cys2393Ser
XM_017009766.1:c.5008T>A	XP_016865255.1:p.Cys1670Ser
XM_024446183.1:c.8176T>A	XP_024301951.1:p.Cys2726Ser
XM_024446184.1:c.8047T>A	XP_024301952.1:p.Cys2683Ser
XM_024446185.1:c.7693T>A	XP_024301953.1:p.Cys2565Ser
XM_024446186.1:c.7372T>A	XP_024301954.1:p.Cys2458Ser
XR_001742208.1:n.8534T>A
XR_002956171.1:n.8480T>A
XR_925644.2:n.8589T>A
NM_001384732.1:c.8365T>A MANE Select	NP_001371661.1:p.Cys2789Ser
NM_023073.4:c.8203T>A	NP_075561.3:p.Cys2735Ser