Canonical Allele Identifier: CA359474371

Gene: CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37154072A>T (hg19) ; chr5:g.37153970A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153970A>T , CM000667.2:g.37153970A>T	GRCh38
NC_000005.9:g.37154072A>T , CM000667.1:g.37154072A>T	GRCh37
NC_000005.8:g.37189829A>T	NCBI36
NG_032772.1:g.100459T>A
NG_032772.2:g.100459T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1142T>A
ENST00000651892.2:c.8143T>A MANE Select	ENSP00000498265.2:p.Phe2715Ile
ENST00000425232.6:c.7981T>A	ENSP00000389014.2:p.Phe2661Ile
ENST00000508244.5:c.7981T>A	ENSP00000421690.1:p.Phe2661Ile
ENST00000509849.5:c.5155T>A	ENSP00000426337.1:p.Phe1719Ile
ENST00000509957.5:n.385T>A
ENST00000511210.5:n.434T>A
ENST00000511824.2:c.1257T>A
ENST00000514429.5:c.5179T>A	ENSP00000424223.1:p.Phe1727Ile
ENST00000515380.1:n.395T>A
NM_023073.3:c.7981T>A	NP_075561.3:p.Phe2661Ile
XM_005248345.2:c.8143T>A	XP_005248402.1:p.Phe2715Ile
XM_005248346.2:c.8140T>A	XP_005248403.1:p.Phe2714Ile
XM_005248347.2:c.8140T>A	XP_005248404.1:p.Phe2714Ile
XM_005248349.2:c.8032T>A	XP_005248406.1:p.Phe2678Ile
XM_005248350.2:c.8014T>A	XP_005248407.1:p.Phe2672Ile
XM_005248353.3:c.4786T>A	XP_005248410.1:p.Phe1596Ile
XM_006714489.2:c.8143T>A	XP_006714552.1:p.Phe2715Ile
XM_006714491.2:c.2716T>A	XP_006714554.1:p.Phe906Ile
XM_011514085.1:c.8143T>A	XP_011512387.1:p.Phe2715Ile
XM_011514086.1:c.8143T>A	XP_011512388.1:p.Phe2715Ile
XM_011514087.1:c.8089T>A	XP_011512389.1:p.Phe2697Ile
XM_011514088.1:c.8035T>A	XP_011512390.1:p.Phe2679Ile
XM_011514089.1:c.8143T>A	XP_011512391.1:p.Phe2715Ile
XM_011514090.1:c.7825T>A	XP_011512392.1:p.Phe2609Ile
XM_011514091.1:c.7471T>A	XP_011512393.1:p.Phe2491Ile
XM_011514092.1:c.8143T>A	XP_011512394.1:p.Phe2715Ile
XM_011514094.1:c.5368T>A	XP_011512396.1:p.Phe1790Ile
XR_427661.2:n.8318T>A
XR_925644.1:n.8318T>A
XM_005248345.4:c.8143T>A	XP_005248402.1:p.Phe2715Ile
XM_005248346.4:c.8140T>A	XP_005248403.1:p.Phe2714Ile
XM_005248347.4:c.8140T>A	XP_005248404.1:p.Phe2714Ile
XM_005248349.4:c.8032T>A	XP_005248406.1:p.Phe2678Ile
XM_005248350.4:c.8014T>A	XP_005248407.1:p.Phe2672Ile
XM_006714491.3:c.2716T>A	XP_006714554.1:p.Phe906Ile
XM_011514085.3:c.8143T>A	XP_011512387.1:p.Phe2715Ile
XM_011514086.3:c.8143T>A	XP_011512388.1:p.Phe2715Ile
XM_011514087.2:c.8089T>A	XP_011512389.1:p.Phe2697Ile
XM_011514088.2:c.8035T>A	XP_011512390.1:p.Phe2679Ile
XM_011514089.2:c.8143T>A	XP_011512391.1:p.Phe2715Ile
XM_011514090.3:c.7825T>A	XP_011512392.1:p.Phe2609Ile
XM_011514092.2:c.8143T>A	XP_011512394.1:p.Phe2715Ile
XM_011514094.2:c.5368T>A	XP_011512396.1:p.Phe1790Ile
XM_017009760.1:c.7954T>A	XP_016865249.1:p.Phe2652Ile
XM_017009761.2:c.7954T>A	XP_016865250.1:p.Phe2652Ile
XM_017009763.1:c.7150T>A	XP_016865252.1:p.Phe2384Ile
XM_017009765.1:c.6955T>A	XP_016865254.1:p.Phe2319Ile
XM_017009766.1:c.4786T>A	XP_016865255.1:p.Phe1596Ile
XM_024446183.1:c.7954T>A	XP_024301951.1:p.Phe2652Ile
XM_024446184.1:c.7825T>A	XP_024301952.1:p.Phe2609Ile
XM_024446185.1:c.7471T>A	XP_024301953.1:p.Phe2491Ile
XM_024446186.1:c.7150T>A	XP_024301954.1:p.Phe2384Ile
XR_001742208.1:n.8312T>A
XR_002956171.1:n.8258T>A
XR_925644.2:n.8367T>A
NM_001384732.1:c.8143T>A MANE Select	NP_001371661.1:p.Phe2715Ile
NM_023073.4:c.7981T>A	NP_075561.3:p.Phe2661Ile