Canonical Allele Identifier: CA117058183

Gene: CPLANE1

Linked Data

• dbSNP Id: rs931594538
• gnomAD v2: 5-37227537-T-C
• gnomAD v4: 5-37227435-T-C
• MyVariant Identifiers: chr5:g.37227537T>C (hg19) ; chr5:g.37227435T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37227435T>C , CM000667.2:g.37227435T>C	GRCh38
NC_000005.9:g.37227537T>C , CM000667.1:g.37227537T>C	GRCh37
NC_000005.8:g.37263294T>C	NCBI36
NG_032772.1:g.26994A>G
NG_032772.2:g.26994A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425232.7:c.1105-43A>G
ENST00000651892.2:c.1372-43A>G MANE Select	ENSP00000498265.2:n.1372-43A>G
ENST00000675547.1:n.1442-43A>G
ENST00000676290.1:n.1447-43A>G
ENST00000425232.6:c.1372-43A>G	ENSP00000389014.2:n.1372-43A>G
ENST00000508244.5:c.1372-43A>G	ENSP00000421690.1:n.1372-43A>G
NM_023073.3:c.1372-43A>G	NP_075561.3:n.1372-43A>G
XM_005248345.2:c.1372-43A>G	XP_005248402.1:n.1372-43A>G
XM_005248346.2:c.1372-43A>G	XP_005248403.1:n.1372-43A>G
XM_005248347.2:c.1372-43A>G	XP_005248404.1:n.1372-43A>G
XM_005248349.2:c.1372-43A>G	XP_005248406.1:n.1372-43A>G
XM_005248350.2:c.1372-43A>G	XP_005248407.1:n.1372-43A>G
XM_006714489.2:c.1372-43A>G	XP_006714552.1:n.1372-43A>G
XM_011514085.1:c.1372-43A>G	XP_011512387.1:n.1372-43A>G
XM_011514086.1:c.1372-43A>G	XP_011512388.1:n.1372-43A>G
XM_011514087.1:c.1372-43A>G	XP_011512389.1:n.1372-43A>G
XM_011514088.1:c.1372-43A>G	XP_011512390.1:n.1372-43A>G
XM_011514089.1:c.1372-43A>G	XP_011512391.1:n.1372-43A>G
XM_011514090.1:c.1054-43A>G	XP_011512392.1:n.1054-43A>G
XM_011514091.1:c.700-43A>G	XP_011512393.1:n.700-43A>G
XM_011514092.1:c.1372-43A>G	XP_011512394.1:n.1372-43A>G
XM_011514093.1:c.1372-43A>G	XP_011512395.1:n.1372-43A>G
XR_427661.2:n.1547-43A>G
XR_925644.1:n.1547-43A>G
XM_005248345.4:c.1372-43A>G	XP_005248402.1:n.1372-43A>G
XM_005248346.4:c.1372-43A>G	XP_005248403.1:n.1372-43A>G
XM_005248347.4:c.1372-43A>G	XP_005248404.1:n.1372-43A>G
XM_005248349.4:c.1372-43A>G	XP_005248406.1:n.1372-43A>G
XM_005248350.4:c.1372-43A>G	XP_005248407.1:n.1372-43A>G
XM_011514085.3:c.1372-43A>G	XP_011512387.1:n.1372-43A>G
XM_011514086.3:c.1372-43A>G	XP_011512388.1:n.1372-43A>G
XM_011514087.2:c.1372-43A>G	XP_011512389.1:n.1372-43A>G
XM_011514088.2:c.1372-43A>G	XP_011512390.1:n.1372-43A>G
XM_011514089.2:c.1372-43A>G	XP_011512391.1:n.1372-43A>G
XM_011514090.3:c.1054-43A>G	XP_011512392.1:n.1054-43A>G
XM_011514092.2:c.1372-43A>G	XP_011512394.1:n.1372-43A>G
XM_017009760.1:c.1183-43A>G	XP_016865249.1:n.1183-43A>G
XM_017009761.2:c.1183-43A>G	XP_016865250.1:n.1183-43A>G
XM_017009763.1:c.379-43A>G	XP_016865252.1:n.379-43A>G
XM_017009765.1:c.184-43A>G	XP_016865254.1:n.184-43A>G
XM_024446183.1:c.1183-43A>G	XP_024301951.1:n.1183-43A>G
XM_024446184.1:c.1054-43A>G	XP_024301952.1:n.1054-43A>G
XM_024446185.1:c.700-43A>G	XP_024301953.1:n.700-43A>G
XM_024446186.1:c.379-43A>G	XP_024301954.1:n.379-43A>G
XR_001742208.1:n.1596-43A>G
XR_002956171.1:n.1596-43A>G
XR_925644.2:n.1596-43A>G
NM_001384732.1:c.1372-43A>G MANE Select	NP_001371661.1:n.1372-43A>G
NM_023073.4:c.1372-43A>G	NP_075561.3:n.1372-43A>G