Canonical Allele Identifier: CA444096703

Gene: CPLANE1

Linked Data

• dbSNP Id: rs1185442770
• gnomAD v2: 5-37153968-G-A
• gnomAD v4: 5-37153866-G-A
• MyVariant Identifiers: chr5:g.37153968G>A (hg19) ; chr5:g.37153866G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153866G>A , CM000667.2:g.37153866G>A	GRCh38
NC_000005.9:g.37153968G>A , CM000667.1:g.37153968G>A	GRCh37
NC_000005.8:g.37189725G>A	NCBI36
NG_032772.1:g.100563C>T
NG_032772.2:g.100563C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1246C>T
ENST00000651892.2:c.8247C>T MANE Select	ENSP00000498265.2:p.His2749=
ENST00000425232.6:c.8085C>T	ENSP00000389014.2:p.His2695=
ENST00000508244.5:c.8085C>T	ENSP00000421690.1:p.His2695=
ENST00000509849.5:c.5259C>T	ENSP00000426337.1:p.His1753=
ENST00000509957.5:n.489C>T
ENST00000511210.5:n.538C>T
ENST00000511824.2:c.1361C>T
ENST00000514429.5:c.5283C>T	ENSP00000424223.1:p.His1761=
NM_023073.3:c.8085C>T	NP_075561.3:p.His2695=
XM_005248345.2:c.8247C>T	XP_005248402.1:p.His2749=
XM_005248346.2:c.8244C>T	XP_005248403.1:p.His2748=
XM_005248347.2:c.8244C>T	XP_005248404.1:p.His2748=
XM_005248349.2:c.8136C>T	XP_005248406.1:p.His2712=
XM_005248350.2:c.8118C>T	XP_005248407.1:p.His2706=
XM_005248353.3:c.4890C>T	XP_005248410.1:p.His1630=
XM_006714489.2:c.8247C>T	XP_006714552.1:p.His2749=
XM_006714491.2:c.2820C>T	XP_006714554.1:p.His940=
XM_011514085.1:c.8247C>T	XP_011512387.1:p.His2749=
XM_011514086.1:c.8247C>T	XP_011512388.1:p.His2749=
XM_011514087.1:c.8193C>T	XP_011512389.1:p.His2731=
XM_011514088.1:c.8139C>T	XP_011512390.1:p.His2713=
XM_011514089.1:c.8247C>T	XP_011512391.1:p.His2749=
XM_011514090.1:c.7929C>T	XP_011512392.1:p.His2643=
XM_011514091.1:c.7575C>T	XP_011512393.1:p.His2525=
XM_011514092.1:c.8247C>T	XP_011512394.1:p.His2749=
XM_011514094.1:c.5472C>T	XP_011512396.1:p.His1824=
XR_427661.2:n.8422C>T
XR_925644.1:n.8422C>T
XM_005248345.4:c.8247C>T	XP_005248402.1:p.His2749=
XM_005248346.4:c.8244C>T	XP_005248403.1:p.His2748=
XM_005248347.4:c.8244C>T	XP_005248404.1:p.His2748=
XM_005248349.4:c.8136C>T	XP_005248406.1:p.His2712=
XM_005248350.4:c.8118C>T	XP_005248407.1:p.His2706=
XM_006714491.3:c.2820C>T	XP_006714554.1:p.His940=
XM_011514085.3:c.8247C>T	XP_011512387.1:p.His2749=
XM_011514086.3:c.8247C>T	XP_011512388.1:p.His2749=
XM_011514087.2:c.8193C>T	XP_011512389.1:p.His2731=
XM_011514088.2:c.8139C>T	XP_011512390.1:p.His2713=
XM_011514089.2:c.8247C>T	XP_011512391.1:p.His2749=
XM_011514090.3:c.7929C>T	XP_011512392.1:p.His2643=
XM_011514092.2:c.8247C>T	XP_011512394.1:p.His2749=
XM_011514094.2:c.5472C>T	XP_011512396.1:p.His1824=
XM_017009760.1:c.8058C>T	XP_016865249.1:p.His2686=
XM_017009761.2:c.8058C>T	XP_016865250.1:p.His2686=
XM_017009763.1:c.7254C>T	XP_016865252.1:p.His2418=
XM_017009765.1:c.7059C>T	XP_016865254.1:p.His2353=
XM_017009766.1:c.4890C>T	XP_016865255.1:p.His1630=
XM_024446183.1:c.8058C>T	XP_024301951.1:p.His2686=
XM_024446184.1:c.7929C>T	XP_024301952.1:p.His2643=
XM_024446185.1:c.7575C>T	XP_024301953.1:p.His2525=
XM_024446186.1:c.7254C>T	XP_024301954.1:p.His2418=
XR_001742208.1:n.8416C>T
XR_002956171.1:n.8362C>T
XR_925644.2:n.8471C>T
NM_001384732.1:c.8247C>T MANE Select	NP_001371661.1:p.His2749=
NM_023073.4:c.8085C>T	NP_075561.3:p.His2695=