Canonical Allele Identifier: CA359474353

Gene: CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37154068T>C (hg19) ; chr5:g.37153966T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153966T>C , CM000667.2:g.37153966T>C	GRCh38
NC_000005.9:g.37154068T>C , CM000667.1:g.37154068T>C	GRCh37
NC_000005.8:g.37189825T>C	NCBI36
NG_032772.1:g.100463A>G
NG_032772.2:g.100463A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1146A>G
ENST00000651892.2:c.8147A>G MANE Select	ENSP00000498265.2:p.Lys2716Arg
ENST00000425232.6:c.7985A>G	ENSP00000389014.2:p.Lys2662Arg
ENST00000508244.5:c.7985A>G	ENSP00000421690.1:p.Lys2662Arg
ENST00000509849.5:c.5159A>G	ENSP00000426337.1:p.Lys1720Arg
ENST00000509957.5:n.389A>G
ENST00000511210.5:n.438A>G
ENST00000511824.2:c.1261A>G
ENST00000514429.5:c.5183A>G	ENSP00000424223.1:p.Lys1728Arg
ENST00000515380.1:n.399A>G
NM_023073.3:c.7985A>G	NP_075561.3:p.Lys2662Arg
XM_005248345.2:c.8147A>G	XP_005248402.1:p.Lys2716Arg
XM_005248346.2:c.8144A>G	XP_005248403.1:p.Lys2715Arg
XM_005248347.2:c.8144A>G	XP_005248404.1:p.Lys2715Arg
XM_005248349.2:c.8036A>G	XP_005248406.1:p.Lys2679Arg
XM_005248350.2:c.8018A>G	XP_005248407.1:p.Lys2673Arg
XM_005248353.3:c.4790A>G	XP_005248410.1:p.Lys1597Arg
XM_006714489.2:c.8147A>G	XP_006714552.1:p.Lys2716Arg
XM_006714491.2:c.2720A>G	XP_006714554.1:p.Lys907Arg
XM_011514085.1:c.8147A>G	XP_011512387.1:p.Lys2716Arg
XM_011514086.1:c.8147A>G	XP_011512388.1:p.Lys2716Arg
XM_011514087.1:c.8093A>G	XP_011512389.1:p.Lys2698Arg
XM_011514088.1:c.8039A>G	XP_011512390.1:p.Lys2680Arg
XM_011514089.1:c.8147A>G	XP_011512391.1:p.Lys2716Arg
XM_011514090.1:c.7829A>G	XP_011512392.1:p.Lys2610Arg
XM_011514091.1:c.7475A>G	XP_011512393.1:p.Lys2492Arg
XM_011514092.1:c.8147A>G	XP_011512394.1:p.Lys2716Arg
XM_011514094.1:c.5372A>G	XP_011512396.1:p.Lys1791Arg
XR_427661.2:n.8322A>G
XR_925644.1:n.8322A>G
XM_005248345.4:c.8147A>G	XP_005248402.1:p.Lys2716Arg
XM_005248346.4:c.8144A>G	XP_005248403.1:p.Lys2715Arg
XM_005248347.4:c.8144A>G	XP_005248404.1:p.Lys2715Arg
XM_005248349.4:c.8036A>G	XP_005248406.1:p.Lys2679Arg
XM_005248350.4:c.8018A>G	XP_005248407.1:p.Lys2673Arg
XM_006714491.3:c.2720A>G	XP_006714554.1:p.Lys907Arg
XM_011514085.3:c.8147A>G	XP_011512387.1:p.Lys2716Arg
XM_011514086.3:c.8147A>G	XP_011512388.1:p.Lys2716Arg
XM_011514087.2:c.8093A>G	XP_011512389.1:p.Lys2698Arg
XM_011514088.2:c.8039A>G	XP_011512390.1:p.Lys2680Arg
XM_011514089.2:c.8147A>G	XP_011512391.1:p.Lys2716Arg
XM_011514090.3:c.7829A>G	XP_011512392.1:p.Lys2610Arg
XM_011514092.2:c.8147A>G	XP_011512394.1:p.Lys2716Arg
XM_011514094.2:c.5372A>G	XP_011512396.1:p.Lys1791Arg
XM_017009760.1:c.7958A>G	XP_016865249.1:p.Lys2653Arg
XM_017009761.2:c.7958A>G	XP_016865250.1:p.Lys2653Arg
XM_017009763.1:c.7154A>G	XP_016865252.1:p.Lys2385Arg
XM_017009765.1:c.6959A>G	XP_016865254.1:p.Lys2320Arg
XM_017009766.1:c.4790A>G	XP_016865255.1:p.Lys1597Arg
XM_024446183.1:c.7958A>G	XP_024301951.1:p.Lys2653Arg
XM_024446184.1:c.7829A>G	XP_024301952.1:p.Lys2610Arg
XM_024446185.1:c.7475A>G	XP_024301953.1:p.Lys2492Arg
XM_024446186.1:c.7154A>G	XP_024301954.1:p.Lys2385Arg
XR_001742208.1:n.8316A>G
XR_002956171.1:n.8262A>G
XR_925644.2:n.8371A>G
NM_001384732.1:c.8147A>G MANE Select	NP_001371661.1:p.Lys2716Arg
NM_023073.4:c.7985A>G	NP_075561.3:p.Lys2662Arg