Canonical Allele Identifier: CA359498414

Gene: CPLANE1

Linked Data

• dbSNP Id: rs1275477780
• gnomAD v2: 5-37125360-G-A
• gnomAD v4: 5-37125258-G-A
• MyVariant Identifiers: chr5:g.37125360G>A (hg19) ; chr5:g.37125258G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37125258G>A , CM000667.2:g.37125258G>A	GRCh38
NC_000005.9:g.37125360G>A , CM000667.1:g.37125360G>A	GRCh37
NC_000005.8:g.37161117G>A	NCBI36
NG_032772.1:g.129171C>T
NG_032772.2:g.129171C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000510830.2:n.1943C>T
ENST00000651892.2:c.8944C>T MANE Select	ENSP00000498265.2:p.Pro2982Ser
ENST00000676160.1:n.805C>T
ENST00000425232.6:c.8782C>T	ENSP00000389014.2:p.Pro2928Ser
ENST00000508244.5:c.8782C>T	ENSP00000421690.1:p.Pro2928Ser
ENST00000509849.5:c.5956C>T	ENSP00000426337.1:n.5956C>T
ENST00000509957.5:n.4125C>T
ENST00000512288.5:n.342-3474C>T
ENST00000514429.5:c.5980C>T	ENSP00000424223.1:p.Pro1994Ser
NM_023073.3:c.8782C>T	NP_075561.3:p.Pro2928Ser
XM_005248345.2:c.8944C>T	XP_005248402.1:p.Pro2982Ser
XM_005248346.2:c.8941C>T	XP_005248403.1:p.Pro2981Ser
XM_005248347.2:c.8941C>T	XP_005248404.1:p.Pro2981Ser
XM_005248349.2:c.8833C>T	XP_005248406.1:p.Pro2945Ser
XM_005248350.2:c.8815C>T	XP_005248407.1:p.Pro2939Ser
XM_005248353.3:c.5587C>T	XP_005248410.1:p.Pro1863Ser
XM_006714489.2:c.8944C>T	XP_006714552.1:p.Pro2982Ser
XM_006714491.2:c.3517C>T	XP_006714554.1:p.Pro1173Ser
XM_011514085.1:c.8944C>T	XP_011512387.1:p.Pro2982Ser
XM_011514086.1:c.8944C>T	XP_011512388.1:p.Pro2982Ser
XM_011514087.1:c.8890C>T	XP_011512389.1:p.Pro2964Ser
XM_011514088.1:c.8836C>T	XP_011512390.1:p.Pro2946Ser
XM_011514089.1:c.8944C>T	XP_011512391.1:p.Pro2982Ser
XM_011514090.1:c.8626C>T	XP_011512392.1:p.Pro2876Ser
XM_011514091.1:c.8272C>T	XP_011512393.1:p.Pro2758Ser
XM_011514092.1:c.8944C>T	XP_011512394.1:p.Pro2982Ser
XM_011514094.1:c.6169C>T	XP_011512396.1:p.Pro2057Ser
XR_427661.2:n.9119C>T
XR_925644.1:n.9119C>T
XM_005248345.4:c.8944C>T	XP_005248402.1:p.Pro2982Ser
XM_005248346.4:c.8941C>T	XP_005248403.1:p.Pro2981Ser
XM_005248347.4:c.8941C>T	XP_005248404.1:p.Pro2981Ser
XM_005248349.4:c.8833C>T	XP_005248406.1:p.Pro2945Ser
XM_005248350.4:c.8815C>T	XP_005248407.1:p.Pro2939Ser
XM_006714491.3:c.3517C>T	XP_006714554.1:p.Pro1173Ser
XM_011514085.3:c.8944C>T	XP_011512387.1:p.Pro2982Ser
XM_011514086.3:c.8944C>T	XP_011512388.1:p.Pro2982Ser
XM_011514087.2:c.8890C>T	XP_011512389.1:p.Pro2964Ser
XM_011514088.2:c.8836C>T	XP_011512390.1:p.Pro2946Ser
XM_011514089.2:c.8944C>T	XP_011512391.1:p.Pro2982Ser
XM_011514090.3:c.8626C>T	XP_011512392.1:p.Pro2876Ser
XM_011514092.2:c.8944C>T	XP_011512394.1:p.Pro2982Ser
XM_011514094.2:c.6169C>T	XP_011512396.1:p.Pro2057Ser
XM_017009760.1:c.8755C>T	XP_016865249.1:p.Pro2919Ser
XM_017009761.2:c.8755C>T	XP_016865250.1:p.Pro2919Ser
XM_017009763.1:c.7951C>T	XP_016865252.1:p.Pro2651Ser
XM_017009765.1:c.7756C>T	XP_016865254.1:p.Pro2586Ser
XM_017009766.1:c.5587C>T	XP_016865255.1:p.Pro1863Ser
XM_024446183.1:c.8755C>T	XP_024301951.1:p.Pro2919Ser
XM_024446184.1:c.8626C>T	XP_024301952.1:p.Pro2876Ser
XM_024446185.1:c.8272C>T	XP_024301953.1:p.Pro2758Ser
XM_024446186.1:c.7951C>T	XP_024301954.1:p.Pro2651Ser
XR_925644.2:n.9168C>T
NM_001384732.1:c.8944C>T MANE Select	NP_001371661.1:p.Pro2982Ser
NM_023073.4:c.8782C>T	NP_075561.3:p.Pro2928Ser