Canonical Allele Identifier: CA359474041

Gene: CPLANE1

Linked Data

• gnomAD v4: 5-37153879-C-T
• MyVariant Identifiers: chr5:g.37153981C>T (hg19) ; chr5:g.37153879C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153879C>T , CM000667.2:g.37153879C>T	GRCh38
NC_000005.9:g.37153981C>T , CM000667.1:g.37153981C>T	GRCh37
NC_000005.8:g.37189738C>T	NCBI36
NG_032772.1:g.100550G>A
NG_032772.2:g.100550G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1233G>A
ENST00000651892.2:c.8234G>A MANE Select	ENSP00000498265.2:p.Ser2745Asn
ENST00000425232.6:c.8072G>A	ENSP00000389014.2:p.Ser2691Asn
ENST00000508244.5:c.8072G>A	ENSP00000421690.1:p.Ser2691Asn
ENST00000509849.5:c.5246G>A	ENSP00000426337.1:p.Ser1749Asn
ENST00000509957.5:n.476G>A
ENST00000511210.5:n.525G>A
ENST00000511824.2:c.1348G>A
ENST00000514429.5:c.5270G>A	ENSP00000424223.1:p.Ser1757Asn
NM_023073.3:c.8072G>A	NP_075561.3:p.Ser2691Asn
XM_005248345.2:c.8234G>A	XP_005248402.1:p.Ser2745Asn
XM_005248346.2:c.8231G>A	XP_005248403.1:p.Ser2744Asn
XM_005248347.2:c.8231G>A	XP_005248404.1:p.Ser2744Asn
XM_005248349.2:c.8123G>A	XP_005248406.1:p.Ser2708Asn
XM_005248350.2:c.8105G>A	XP_005248407.1:p.Ser2702Asn
XM_005248353.3:c.4877G>A	XP_005248410.1:p.Ser1626Asn
XM_006714489.2:c.8234G>A	XP_006714552.1:p.Ser2745Asn
XM_006714491.2:c.2807G>A	XP_006714554.1:p.Ser936Asn
XM_011514085.1:c.8234G>A	XP_011512387.1:p.Ser2745Asn
XM_011514086.1:c.8234G>A	XP_011512388.1:p.Ser2745Asn
XM_011514087.1:c.8180G>A	XP_011512389.1:p.Ser2727Asn
XM_011514088.1:c.8126G>A	XP_011512390.1:p.Ser2709Asn
XM_011514089.1:c.8234G>A	XP_011512391.1:p.Ser2745Asn
XM_011514090.1:c.7916G>A	XP_011512392.1:p.Ser2639Asn
XM_011514091.1:c.7562G>A	XP_011512393.1:p.Ser2521Asn
XM_011514092.1:c.8234G>A	XP_011512394.1:p.Ser2745Asn
XM_011514094.1:c.5459G>A	XP_011512396.1:p.Ser1820Asn
XR_427661.2:n.8409G>A
XR_925644.1:n.8409G>A
XM_005248345.4:c.8234G>A	XP_005248402.1:p.Ser2745Asn
XM_005248346.4:c.8231G>A	XP_005248403.1:p.Ser2744Asn
XM_005248347.4:c.8231G>A	XP_005248404.1:p.Ser2744Asn
XM_005248349.4:c.8123G>A	XP_005248406.1:p.Ser2708Asn
XM_005248350.4:c.8105G>A	XP_005248407.1:p.Ser2702Asn
XM_006714491.3:c.2807G>A	XP_006714554.1:p.Ser936Asn
XM_011514085.3:c.8234G>A	XP_011512387.1:p.Ser2745Asn
XM_011514086.3:c.8234G>A	XP_011512388.1:p.Ser2745Asn
XM_011514087.2:c.8180G>A	XP_011512389.1:p.Ser2727Asn
XM_011514088.2:c.8126G>A	XP_011512390.1:p.Ser2709Asn
XM_011514089.2:c.8234G>A	XP_011512391.1:p.Ser2745Asn
XM_011514090.3:c.7916G>A	XP_011512392.1:p.Ser2639Asn
XM_011514092.2:c.8234G>A	XP_011512394.1:p.Ser2745Asn
XM_011514094.2:c.5459G>A	XP_011512396.1:p.Ser1820Asn
XM_017009760.1:c.8045G>A	XP_016865249.1:p.Ser2682Asn
XM_017009761.2:c.8045G>A	XP_016865250.1:p.Ser2682Asn
XM_017009763.1:c.7241G>A	XP_016865252.1:p.Ser2414Asn
XM_017009765.1:c.7046G>A	XP_016865254.1:p.Ser2349Asn
XM_017009766.1:c.4877G>A	XP_016865255.1:p.Ser1626Asn
XM_024446183.1:c.8045G>A	XP_024301951.1:p.Ser2682Asn
XM_024446184.1:c.7916G>A	XP_024301952.1:p.Ser2639Asn
XM_024446185.1:c.7562G>A	XP_024301953.1:p.Ser2521Asn
XM_024446186.1:c.7241G>A	XP_024301954.1:p.Ser2414Asn
XR_001742208.1:n.8403G>A
XR_002956171.1:n.8349G>A
XR_925644.2:n.8458G>A
NM_001384732.1:c.8234G>A MANE Select	NP_001371661.1:p.Ser2745Asn
NM_023073.4:c.8072G>A	NP_075561.3:p.Ser2691Asn