Canonical Allele Identifier: CA359474281

Gene: CPLANE1

Linked Data

• gnomAD v4: 5-37153948-G-A
• MyVariant Identifiers: chr5:g.37154050G>A (hg19) ; chr5:g.37153948G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153948G>A , CM000667.2:g.37153948G>A	GRCh38
NC_000005.9:g.37154050G>A , CM000667.1:g.37154050G>A	GRCh37
NC_000005.8:g.37189807G>A	NCBI36
NG_032772.1:g.100481C>T
NG_032772.2:g.100481C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1164C>T
ENST00000651892.2:c.8165C>T MANE Select	ENSP00000498265.2:p.Ser2722Leu
ENST00000425232.6:c.8003C>T	ENSP00000389014.2:p.Ser2668Leu
ENST00000508244.5:c.8003C>T	ENSP00000421690.1:p.Ser2668Leu
ENST00000509849.5:c.5177C>T	ENSP00000426337.1:p.Ser1726Leu
ENST00000509957.5:n.407C>T
ENST00000511210.5:n.456C>T
ENST00000511824.2:c.1279C>T
ENST00000514429.5:c.5201C>T	ENSP00000424223.1:p.Ser1734Leu
ENST00000515380.1:n.417C>T
NM_023073.3:c.8003C>T	NP_075561.3:p.Ser2668Leu
XM_005248345.2:c.8165C>T	XP_005248402.1:p.Ser2722Leu
XM_005248346.2:c.8162C>T	XP_005248403.1:p.Ser2721Leu
XM_005248347.2:c.8162C>T	XP_005248404.1:p.Ser2721Leu
XM_005248349.2:c.8054C>T	XP_005248406.1:p.Ser2685Leu
XM_005248350.2:c.8036C>T	XP_005248407.1:p.Ser2679Leu
XM_005248353.3:c.4808C>T	XP_005248410.1:p.Ser1603Leu
XM_006714489.2:c.8165C>T	XP_006714552.1:p.Ser2722Leu
XM_006714491.2:c.2738C>T	XP_006714554.1:p.Ser913Leu
XM_011514085.1:c.8165C>T	XP_011512387.1:p.Ser2722Leu
XM_011514086.1:c.8165C>T	XP_011512388.1:p.Ser2722Leu
XM_011514087.1:c.8111C>T	XP_011512389.1:p.Ser2704Leu
XM_011514088.1:c.8057C>T	XP_011512390.1:p.Ser2686Leu
XM_011514089.1:c.8165C>T	XP_011512391.1:p.Ser2722Leu
XM_011514090.1:c.7847C>T	XP_011512392.1:p.Ser2616Leu
XM_011514091.1:c.7493C>T	XP_011512393.1:p.Ser2498Leu
XM_011514092.1:c.8165C>T	XP_011512394.1:p.Ser2722Leu
XM_011514094.1:c.5390C>T	XP_011512396.1:p.Ser1797Leu
XR_427661.2:n.8340C>T
XR_925644.1:n.8340C>T
XM_005248345.4:c.8165C>T	XP_005248402.1:p.Ser2722Leu
XM_005248346.4:c.8162C>T	XP_005248403.1:p.Ser2721Leu
XM_005248347.4:c.8162C>T	XP_005248404.1:p.Ser2721Leu
XM_005248349.4:c.8054C>T	XP_005248406.1:p.Ser2685Leu
XM_005248350.4:c.8036C>T	XP_005248407.1:p.Ser2679Leu
XM_006714491.3:c.2738C>T	XP_006714554.1:p.Ser913Leu
XM_011514085.3:c.8165C>T	XP_011512387.1:p.Ser2722Leu
XM_011514086.3:c.8165C>T	XP_011512388.1:p.Ser2722Leu
XM_011514087.2:c.8111C>T	XP_011512389.1:p.Ser2704Leu
XM_011514088.2:c.8057C>T	XP_011512390.1:p.Ser2686Leu
XM_011514089.2:c.8165C>T	XP_011512391.1:p.Ser2722Leu
XM_011514090.3:c.7847C>T	XP_011512392.1:p.Ser2616Leu
XM_011514092.2:c.8165C>T	XP_011512394.1:p.Ser2722Leu
XM_011514094.2:c.5390C>T	XP_011512396.1:p.Ser1797Leu
XM_017009760.1:c.7976C>T	XP_016865249.1:p.Ser2659Leu
XM_017009761.2:c.7976C>T	XP_016865250.1:p.Ser2659Leu
XM_017009763.1:c.7172C>T	XP_016865252.1:p.Ser2391Leu
XM_017009765.1:c.6977C>T	XP_016865254.1:p.Ser2326Leu
XM_017009766.1:c.4808C>T	XP_016865255.1:p.Ser1603Leu
XM_024446183.1:c.7976C>T	XP_024301951.1:p.Ser2659Leu
XM_024446184.1:c.7847C>T	XP_024301952.1:p.Ser2616Leu
XM_024446185.1:c.7493C>T	XP_024301953.1:p.Ser2498Leu
XM_024446186.1:c.7172C>T	XP_024301954.1:p.Ser2391Leu
XR_001742208.1:n.8334C>T
XR_002956171.1:n.8280C>T
XR_925644.2:n.8389C>T
NM_001384732.1:c.8165C>T MANE Select	NP_001371661.1:p.Ser2722Leu
NM_023073.4:c.8003C>T	NP_075561.3:p.Ser2668Leu