Canonical Allele Identifier: CA359503239

Gene: CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37227445C>A (hg19) ; chr5:g.37227343C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37227343C>A , CM000667.2:g.37227343C>A	GRCh38
NC_000005.9:g.37227445C>A , CM000667.1:g.37227445C>A	GRCh37
NC_000005.8:g.37263202C>A	NCBI36
NG_032772.1:g.27086G>T
NG_032772.2:g.27086G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425232.7:c.1154G>T
ENST00000651892.2:c.1421G>T MANE Select	ENSP00000498265.2:p.Ser474Ile
ENST00000675547.1:n.1491G>T
ENST00000676290.1:n.1496G>T
ENST00000425232.6:c.1421G>T	ENSP00000389014.2:p.Ser474Ile
ENST00000508244.5:c.1421G>T	ENSP00000421690.1:p.Ser474Ile
NM_023073.3:c.1421G>T	NP_075561.3:p.Ser474Ile
XM_005248345.2:c.1421G>T	XP_005248402.1:p.Ser474Ile
XM_005248346.2:c.1421G>T	XP_005248403.1:p.Ser474Ile
XM_005248347.2:c.1421G>T	XP_005248404.1:p.Ser474Ile
XM_005248349.2:c.1421G>T	XP_005248406.1:p.Ser474Ile
XM_005248350.2:c.1421G>T	XP_005248407.1:p.Ser474Ile
XM_006714489.2:c.1421G>T	XP_006714552.1:p.Ser474Ile
XM_011514085.1:c.1421G>T	XP_011512387.1:p.Ser474Ile
XM_011514086.1:c.1421G>T	XP_011512388.1:p.Ser474Ile
XM_011514087.1:c.1421G>T	XP_011512389.1:p.Ser474Ile
XM_011514088.1:c.1421G>T	XP_011512390.1:p.Ser474Ile
XM_011514089.1:c.1421G>T	XP_011512391.1:p.Ser474Ile
XM_011514090.1:c.1103G>T	XP_011512392.1:p.Ser368Ile
XM_011514091.1:c.749G>T	XP_011512393.1:p.Ser250Ile
XM_011514092.1:c.1421G>T	XP_011512394.1:p.Ser474Ile
XM_011514093.1:c.1421G>T	XP_011512395.1:p.Ser474Ile
XR_427661.2:n.1596G>T
XR_925644.1:n.1596G>T
XM_005248345.4:c.1421G>T	XP_005248402.1:p.Ser474Ile
XM_005248346.4:c.1421G>T	XP_005248403.1:p.Ser474Ile
XM_005248347.4:c.1421G>T	XP_005248404.1:p.Ser474Ile
XM_005248349.4:c.1421G>T	XP_005248406.1:p.Ser474Ile
XM_005248350.4:c.1421G>T	XP_005248407.1:p.Ser474Ile
XM_011514085.3:c.1421G>T	XP_011512387.1:p.Ser474Ile
XM_011514086.3:c.1421G>T	XP_011512388.1:p.Ser474Ile
XM_011514087.2:c.1421G>T	XP_011512389.1:p.Ser474Ile
XM_011514088.2:c.1421G>T	XP_011512390.1:p.Ser474Ile
XM_011514089.2:c.1421G>T	XP_011512391.1:p.Ser474Ile
XM_011514090.3:c.1103G>T	XP_011512392.1:p.Ser368Ile
XM_011514092.2:c.1421G>T	XP_011512394.1:p.Ser474Ile
XM_017009760.1:c.1232G>T	XP_016865249.1:p.Ser411Ile
XM_017009761.2:c.1232G>T	XP_016865250.1:p.Ser411Ile
XM_017009763.1:c.428G>T	XP_016865252.1:p.Ser143Ile
XM_017009765.1:c.233G>T	XP_016865254.1:p.Ser78Ile
XM_024446183.1:c.1232G>T	XP_024301951.1:p.Ser411Ile
XM_024446184.1:c.1103G>T	XP_024301952.1:p.Ser368Ile
XM_024446185.1:c.749G>T	XP_024301953.1:p.Ser250Ile
XM_024446186.1:c.428G>T	XP_024301954.1:p.Ser143Ile
XR_001742208.1:n.1645G>T
XR_002956171.1:n.1645G>T
XR_925644.2:n.1645G>T
NM_001384732.1:c.1421G>T MANE Select	NP_001371661.1:p.Ser474Ile
NM_023073.4:c.1421G>T	NP_075561.3:p.Ser474Ile