Canonical Allele Identifier: CA3237425

Gene: CPLANE1

Linked Data

• ClinVar Variation Id: 470168
• ClinVar RCV Id: RCV000549965 ; RCV001401893
• dbSNP Id: rs369166609
• ExAC: 5:37108388 T / C
• gnomAD v2: 5-37108388-T-C
• gnomAD v3: 5-37108286-T-C
• gnomAD v4: 5-37108286-T-C
• MyVariant Identifiers: chr5:g.37108388T>C (hg19) ; chr5:g.37108286T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37108286T>C , CM000667.2:g.37108286T>C	GRCh38
NC_000005.9:g.37108388T>C , CM000667.1:g.37108388T>C	GRCh37
NC_000005.8:g.37144145T>C	NCBI36
NG_032772.1:g.146143A>G
NG_032772.2:g.146143A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651892.2:c.9579+7A>G MANE Select	ENSP00000498265.2:n.9579+7A>G
ENST00000676160.1:n.2085+7A>G
ENST00000425232.6:c.9417+7A>G	ENSP00000389014.2:n.9417+7A>G
ENST00000508244.5:c.9417+7A>G	ENSP00000421690.1:n.9417+7A>G
ENST00000509849.5:c.6591+7A>G	ENSP00000426337.1:n.6591+7A>G
ENST00000514429.5:c.6615+7A>G	ENSP00000424223.1:n.6615+7A>G
NM_023073.3:c.9417+7A>G	NP_075561.3:n.9417+7A>G
XM_005248345.2:c.9579+7A>G	XP_005248402.1:n.9579+7A>G
XM_005248346.2:c.9576+7A>G	XP_005248403.1:n.9576+7A>G
XM_005248347.2:c.9576+7A>G	XP_005248404.1:n.9576+7A>G
XM_005248349.2:c.9468+7A>G	XP_005248406.1:n.9468+7A>G
XM_005248350.2:c.9450+7A>G	XP_005248407.1:n.9450+7A>G
XM_005248353.3:c.6222+7A>G	XP_005248410.1:n.6222+7A>G
XM_006714489.2:c.9579+7A>G	XP_006714552.1:n.9579+7A>G
XM_006714491.2:c.4152+7A>G	XP_006714554.1:n.4152+7A>G
XM_011514085.1:c.9579+7A>G	XP_011512387.1:n.9579+7A>G
XM_011514086.1:c.9579+7A>G	XP_011512388.1:n.9579+7A>G
XM_011514087.1:c.9525+7A>G	XP_011512389.1:n.9525+7A>G
XM_011514088.1:c.9471+7A>G	XP_011512390.1:n.9471+7A>G
XM_011514089.1:c.9579+7A>G	XP_011512391.1:n.9579+7A>G
XM_011514090.1:c.9261+7A>G	XP_011512392.1:n.9261+7A>G
XM_011514091.1:c.8907+7A>G	XP_011512393.1:n.8907+7A>G
XM_011514094.1:c.6804+7A>G	XP_011512396.1:n.6804+7A>G
XR_427661.2:n.9754+7A>G
XR_925644.1:n.9754+7A>G
XM_005248345.4:c.9579+7A>G	XP_005248402.1:n.9579+7A>G
XM_005248346.4:c.9576+7A>G	XP_005248403.1:n.9576+7A>G
XM_005248347.4:c.9576+7A>G	XP_005248404.1:n.9576+7A>G
XM_005248349.4:c.9468+7A>G	XP_005248406.1:n.9468+7A>G
XM_005248350.4:c.9450+7A>G	XP_005248407.1:n.9450+7A>G
XM_006714491.3:c.4152+7A>G	XP_006714554.1:n.4152+7A>G
XM_011514085.3:c.9579+7A>G	XP_011512387.1:n.9579+7A>G
XM_011514086.3:c.9579+7A>G	XP_011512388.1:n.9579+7A>G
XM_011514087.2:c.9525+7A>G	XP_011512389.1:n.9525+7A>G
XM_011514088.2:c.9471+7A>G	XP_011512390.1:n.9471+7A>G
XM_011514089.2:c.9579+7A>G	XP_011512391.1:n.9579+7A>G
XM_011514090.3:c.9261+7A>G	XP_011512392.1:n.9261+7A>G
XM_011514094.2:c.6804+7A>G	XP_011512396.1:n.6804+7A>G
XM_017009760.1:c.9390+7A>G	XP_016865249.1:n.9390+7A>G
XM_017009761.2:c.9390+7A>G	XP_016865250.1:n.9390+7A>G
XM_017009763.1:c.8586+7A>G	XP_016865252.1:n.8586+7A>G
XM_017009765.1:c.8391+7A>G	XP_016865254.1:n.8391+7A>G
XM_017009766.1:c.6222+7A>G	XP_016865255.1:n.6222+7A>G
XM_024446183.1:c.9390+7A>G	XP_024301951.1:n.9390+7A>G
XM_024446184.1:c.9261+7A>G	XP_024301952.1:n.9261+7A>G
XM_024446185.1:c.8907+7A>G	XP_024301953.1:n.8907+7A>G
XM_024446186.1:c.8586+7A>G	XP_024301954.1:n.8586+7A>G
XR_925644.2:n.9803+7A>G
NM_001384732.1:c.9579+7A>G MANE Select	NP_001371661.1:n.9579+7A>G
NM_023073.4:c.9417+7A>G	NP_075561.3:n.9417+7A>G