Canonical Allele Identifier: CA279466

Gene: CPLANE1

Linked Data

• ClinVar Variation Id: 217564
• ClinVar RCV Id: RCV000201659 ; RCV000987513 ; RCV001857740
• dbSNP Id: rs863225154
• gnomAD v2: 5-37122531-C-T
• gnomAD v3: 5-37122429-C-T
• gnomAD v4: 5-37122429-C-T
• MyVariant Identifiers: chr5:g.37122531C>T (hg19) ; chr5:g.37122531_37122535delinsTCTGT (hg19) ; chr5:g.37122429C>T (hg38) ; chr5:g.37122429_37122433delinsTCTGT (hg38)
• PubMed: PMID:26092869

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37122429C>T , CM000667.2:g.37122429C>T	GRCh38
NC_000005.9:g.37122531C>T , CM000667.1:g.37122531C>T	GRCh37
NC_000005.8:g.37158288C>T	NCBI36
NG_032772.1:g.132000G>A
NG_032772.2:g.132000G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000651892.2:c.9017+1G>A MANE Select	ENSP00000498265.2:n.9017+1G>A
ENST00000676160.1:n.879G>A
ENST00000425232.6:c.8855+1G>A	ENSP00000389014.2:n.8855+1G>A
ENST00000508244.5:c.8855+1G>A	ENSP00000421690.1:n.8855+1G>A
ENST00000509849.5:c.6029+1G>A	ENSP00000426337.1:n.6029+1G>A
ENST00000512288.5:n.342-645G>A
ENST00000514429.5:c.6053+1G>A	ENSP00000424223.1:n.6053+1G>A
NM_023073.3:c.8855+1G>A	NP_075561.3:n.8855+1G>A
XM_005248345.2:c.9017+1G>A	XP_005248402.1:n.9017+1G>A
XM_005248346.2:c.9014+1G>A	XP_005248403.1:n.9014+1G>A
XM_005248347.2:c.9014+1G>A	XP_005248404.1:n.9014+1G>A
XM_005248349.2:c.8906+1G>A	XP_005248406.1:n.8906+1G>A
XM_005248350.2:c.8888+1G>A	XP_005248407.1:n.8888+1G>A
XM_005248353.3:c.5660+1G>A	XP_005248410.1:n.5660+1G>A
XM_006714489.2:c.9017+1G>A	XP_006714552.1:n.9017+1G>A
XM_006714491.2:c.3590+1G>A	XP_006714554.1:n.3590+1G>A
XM_011514085.1:c.9017+1G>A	XP_011512387.1:n.9017+1G>A
XM_011514086.1:c.9017+1G>A	XP_011512388.1:n.9017+1G>A
XM_011514087.1:c.8963+1G>A	XP_011512389.1:n.8963+1G>A
XM_011514088.1:c.8909+1G>A	XP_011512390.1:n.8909+1G>A
XM_011514089.1:c.9017+1G>A	XP_011512391.1:n.9017+1G>A
XM_011514090.1:c.8699+1G>A	XP_011512392.1:n.8699+1G>A
XM_011514091.1:c.8345+1G>A	XP_011512393.1:n.8345+1G>A
XM_011514092.1:c.9017+1G>A	XP_011512394.1:n.9017+1G>A
XM_011514094.1:c.6242+1G>A	XP_011512396.1:n.6242+1G>A
XR_427661.2:n.9192+1G>A
XR_925644.1:n.9192+1G>A
XM_005248345.4:c.9017+1G>A	XP_005248402.1:n.9017+1G>A
XM_005248346.4:c.9014+1G>A	XP_005248403.1:n.9014+1G>A
XM_005248347.4:c.9014+1G>A	XP_005248404.1:n.9014+1G>A
XM_005248349.4:c.8906+1G>A	XP_005248406.1:n.8906+1G>A
XM_005248350.4:c.8888+1G>A	XP_005248407.1:n.8888+1G>A
XM_006714491.3:c.3590+1G>A	XP_006714554.1:n.3590+1G>A
XM_011514085.3:c.9017+1G>A	XP_011512387.1:n.9017+1G>A
XM_011514086.3:c.9017+1G>A	XP_011512388.1:n.9017+1G>A
XM_011514087.2:c.8963+1G>A	XP_011512389.1:n.8963+1G>A
XM_011514088.2:c.8909+1G>A	XP_011512390.1:n.8909+1G>A
XM_011514089.2:c.9017+1G>A	XP_011512391.1:n.9017+1G>A
XM_011514090.3:c.8699+1G>A	XP_011512392.1:n.8699+1G>A
XM_011514092.2:c.9017+1G>A	XP_011512394.1:n.9017+1G>A
XM_011514094.2:c.6242+1G>A	XP_011512396.1:n.6242+1G>A
XM_017009760.1:c.8828+1G>A	XP_016865249.1:n.8828+1G>A
XM_017009761.2:c.8828+1G>A	XP_016865250.1:n.8828+1G>A
XM_017009763.1:c.8024+1G>A	XP_016865252.1:n.8024+1G>A
XM_017009765.1:c.7829+1G>A	XP_016865254.1:n.7829+1G>A
XM_017009766.1:c.5660+1G>A	XP_016865255.1:n.5660+1G>A
XM_024446183.1:c.8828+1G>A	XP_024301951.1:n.8828+1G>A
XM_024446184.1:c.8699+1G>A	XP_024301952.1:n.8699+1G>A
XM_024446185.1:c.8345+1G>A	XP_024301953.1:n.8345+1G>A
XM_024446186.1:c.8024+1G>A	XP_024301954.1:n.8024+1G>A
XR_925644.2:n.9241+1G>A
NM_001384732.1:c.9017+1G>A MANE Select	NP_001371661.1:n.9017+1G>A
NM_023073.4:c.8855+1G>A	NP_075561.3:n.8855+1G>A