Canonical Allele Identifier: CA359474068

Gene: CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37153990G>C (hg19) ; chr5:g.37153888G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153888G>C , CM000667.2:g.37153888G>C	GRCh38
NC_000005.9:g.37153990G>C , CM000667.1:g.37153990G>C	GRCh37
NC_000005.8:g.37189747G>C	NCBI36
NG_032772.1:g.100541C>G
NG_032772.2:g.100541C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1224C>G
ENST00000651892.2:c.8225C>G MANE Select	ENSP00000498265.2:p.Pro2742Arg
ENST00000425232.6:c.8063C>G	ENSP00000389014.2:p.Pro2688Arg
ENST00000508244.5:c.8063C>G	ENSP00000421690.1:p.Pro2688Arg
ENST00000509849.5:c.5237C>G	ENSP00000426337.1:p.Pro1746Arg
ENST00000509957.5:n.467C>G
ENST00000511210.5:n.516C>G
ENST00000511824.2:c.1339C>G
ENST00000514429.5:c.5261C>G	ENSP00000424223.1:p.Pro1754Arg
NM_023073.3:c.8063C>G	NP_075561.3:p.Pro2688Arg
XM_005248345.2:c.8225C>G	XP_005248402.1:p.Pro2742Arg
XM_005248346.2:c.8222C>G	XP_005248403.1:p.Pro2741Arg
XM_005248347.2:c.8222C>G	XP_005248404.1:p.Pro2741Arg
XM_005248349.2:c.8114C>G	XP_005248406.1:p.Pro2705Arg
XM_005248350.2:c.8096C>G	XP_005248407.1:p.Pro2699Arg
XM_005248353.3:c.4868C>G	XP_005248410.1:p.Pro1623Arg
XM_006714489.2:c.8225C>G	XP_006714552.1:p.Pro2742Arg
XM_006714491.2:c.2798C>G	XP_006714554.1:p.Pro933Arg
XM_011514085.1:c.8225C>G	XP_011512387.1:p.Pro2742Arg
XM_011514086.1:c.8225C>G	XP_011512388.1:p.Pro2742Arg
XM_011514087.1:c.8171C>G	XP_011512389.1:p.Pro2724Arg
XM_011514088.1:c.8117C>G	XP_011512390.1:p.Pro2706Arg
XM_011514089.1:c.8225C>G	XP_011512391.1:p.Pro2742Arg
XM_011514090.1:c.7907C>G	XP_011512392.1:p.Pro2636Arg
XM_011514091.1:c.7553C>G	XP_011512393.1:p.Pro2518Arg
XM_011514092.1:c.8225C>G	XP_011512394.1:p.Pro2742Arg
XM_011514094.1:c.5450C>G	XP_011512396.1:p.Pro1817Arg
XR_427661.2:n.8400C>G
XR_925644.1:n.8400C>G
XM_005248345.4:c.8225C>G	XP_005248402.1:p.Pro2742Arg
XM_005248346.4:c.8222C>G	XP_005248403.1:p.Pro2741Arg
XM_005248347.4:c.8222C>G	XP_005248404.1:p.Pro2741Arg
XM_005248349.4:c.8114C>G	XP_005248406.1:p.Pro2705Arg
XM_005248350.4:c.8096C>G	XP_005248407.1:p.Pro2699Arg
XM_006714491.3:c.2798C>G	XP_006714554.1:p.Pro933Arg
XM_011514085.3:c.8225C>G	XP_011512387.1:p.Pro2742Arg
XM_011514086.3:c.8225C>G	XP_011512388.1:p.Pro2742Arg
XM_011514087.2:c.8171C>G	XP_011512389.1:p.Pro2724Arg
XM_011514088.2:c.8117C>G	XP_011512390.1:p.Pro2706Arg
XM_011514089.2:c.8225C>G	XP_011512391.1:p.Pro2742Arg
XM_011514090.3:c.7907C>G	XP_011512392.1:p.Pro2636Arg
XM_011514092.2:c.8225C>G	XP_011512394.1:p.Pro2742Arg
XM_011514094.2:c.5450C>G	XP_011512396.1:p.Pro1817Arg
XM_017009760.1:c.8036C>G	XP_016865249.1:p.Pro2679Arg
XM_017009761.2:c.8036C>G	XP_016865250.1:p.Pro2679Arg
XM_017009763.1:c.7232C>G	XP_016865252.1:p.Pro2411Arg
XM_017009765.1:c.7037C>G	XP_016865254.1:p.Pro2346Arg
XM_017009766.1:c.4868C>G	XP_016865255.1:p.Pro1623Arg
XM_024446183.1:c.8036C>G	XP_024301951.1:p.Pro2679Arg
XM_024446184.1:c.7907C>G	XP_024301952.1:p.Pro2636Arg
XM_024446185.1:c.7553C>G	XP_024301953.1:p.Pro2518Arg
XM_024446186.1:c.7232C>G	XP_024301954.1:p.Pro2411Arg
XR_001742208.1:n.8394C>G
XR_002956171.1:n.8340C>G
XR_925644.2:n.8449C>G
NM_001384732.1:c.8225C>G MANE Select	NP_001371661.1:p.Pro2742Arg
NM_023073.4:c.8063C>G	NP_075561.3:p.Pro2688Arg