Canonical Allele Identifier: CA559295432

Gene: CPLANE1

Linked Data

• dbSNP Id: rs1195296943
• gnomAD v2: 5-37125525-C-A
• gnomAD v3: 5-37125423-C-A
• gnomAD v4: 5-37125423-C-A
• MyVariant Identifiers: chr5:g.37125525C>A (hg19) ; chr5:g.37125423C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37125423C>A , CM000667.2:g.37125423C>A	GRCh38
NC_000005.9:g.37125525C>A , CM000667.1:g.37125525C>A	GRCh37
NC_000005.8:g.37161282C>A	NCBI36
NG_032772.1:g.129006G>T
NG_032772.2:g.129006G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1792-14G>T
ENST00000651892.2:c.8793-14G>T MANE Select	ENSP00000498265.2:n.8793-14G>T
ENST00000676160.1:n.640G>T
ENST00000425232.6:c.8631-14G>T	ENSP00000389014.2:n.8631-14G>T
ENST00000508244.5:c.8631-14G>T	ENSP00000421690.1:n.8631-14G>T
ENST00000509849.5:c.5791G>T	ENSP00000426337.1:n.5791G>T
ENST00000509957.5:n.3974-14G>T
ENST00000512288.5:n.342-3639G>T
ENST00000514429.5:c.5829-14G>T	ENSP00000424223.1:n.5829-14G>T
NM_023073.3:c.8631-14G>T	NP_075561.3:n.8631-14G>T
XM_005248345.2:c.8793-14G>T	XP_005248402.1:n.8793-14G>T
XM_005248346.2:c.8790-14G>T	XP_005248403.1:n.8790-14G>T
XM_005248347.2:c.8790-14G>T	XP_005248404.1:n.8790-14G>T
XM_005248349.2:c.8682-14G>T	XP_005248406.1:n.8682-14G>T
XM_005248350.2:c.8664-14G>T	XP_005248407.1:n.8664-14G>T
XM_005248353.3:c.5436-14G>T	XP_005248410.1:n.5436-14G>T
XM_006714489.2:c.8793-14G>T	XP_006714552.1:n.8793-14G>T
XM_006714491.2:c.3366-14G>T	XP_006714554.1:n.3366-14G>T
XM_011514085.1:c.8793-14G>T	XP_011512387.1:n.8793-14G>T
XM_011514086.1:c.8793-14G>T	XP_011512388.1:n.8793-14G>T
XM_011514087.1:c.8739-14G>T	XP_011512389.1:n.8739-14G>T
XM_011514088.1:c.8685-14G>T	XP_011512390.1:n.8685-14G>T
XM_011514089.1:c.8793-14G>T	XP_011512391.1:n.8793-14G>T
XM_011514090.1:c.8475-14G>T	XP_011512392.1:n.8475-14G>T
XM_011514091.1:c.8121-14G>T	XP_011512393.1:n.8121-14G>T
XM_011514092.1:c.8793-14G>T	XP_011512394.1:n.8793-14G>T
XM_011514094.1:c.6018-14G>T	XP_011512396.1:n.6018-14G>T
XR_427661.2:n.8968-14G>T
XR_925644.1:n.8968-14G>T
XM_005248345.4:c.8793-14G>T	XP_005248402.1:n.8793-14G>T
XM_005248346.4:c.8790-14G>T	XP_005248403.1:n.8790-14G>T
XM_005248347.4:c.8790-14G>T	XP_005248404.1:n.8790-14G>T
XM_005248349.4:c.8682-14G>T	XP_005248406.1:n.8682-14G>T
XM_005248350.4:c.8664-14G>T	XP_005248407.1:n.8664-14G>T
XM_006714491.3:c.3366-14G>T	XP_006714554.1:n.3366-14G>T
XM_011514085.3:c.8793-14G>T	XP_011512387.1:n.8793-14G>T
XM_011514086.3:c.8793-14G>T	XP_011512388.1:n.8793-14G>T
XM_011514087.2:c.8739-14G>T	XP_011512389.1:n.8739-14G>T
XM_011514088.2:c.8685-14G>T	XP_011512390.1:n.8685-14G>T
XM_011514089.2:c.8793-14G>T	XP_011512391.1:n.8793-14G>T
XM_011514090.3:c.8475-14G>T	XP_011512392.1:n.8475-14G>T
XM_011514092.2:c.8793-14G>T	XP_011512394.1:n.8793-14G>T
XM_011514094.2:c.6018-14G>T	XP_011512396.1:n.6018-14G>T
XM_017009760.1:c.8604-14G>T	XP_016865249.1:n.8604-14G>T
XM_017009761.2:c.8604-14G>T	XP_016865250.1:n.8604-14G>T
XM_017009763.1:c.7800-14G>T	XP_016865252.1:n.7800-14G>T
XM_017009765.1:c.7605-14G>T	XP_016865254.1:n.7605-14G>T
XM_017009766.1:c.5436-14G>T	XP_016865255.1:n.5436-14G>T
XM_024446183.1:c.8604-14G>T	XP_024301951.1:n.8604-14G>T
XM_024446184.1:c.8475-14G>T	XP_024301952.1:n.8475-14G>T
XM_024446185.1:c.8121-14G>T	XP_024301953.1:n.8121-14G>T
XM_024446186.1:c.7800-14G>T	XP_024301954.1:n.7800-14G>T
XR_001742208.1:n.8962-14G>T
XR_925644.2:n.9017-14G>T
NM_001384732.1:c.8793-14G>T MANE Select	NP_001371661.1:n.8793-14G>T
NM_023073.4:c.8631-14G>T	NP_075561.3:n.8631-14G>T