Canonical Allele Identifier: CA359474303

Gene: CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37154056G>A (hg19) ; chr5:g.37153954G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153954G>A , CM000667.2:g.37153954G>A	GRCh38
NC_000005.9:g.37154056G>A , CM000667.1:g.37154056G>A	GRCh37
NC_000005.8:g.37189813G>A	NCBI36
NG_032772.1:g.100475C>T
NG_032772.2:g.100475C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1158C>T
ENST00000651892.2:c.8159C>T MANE Select	ENSP00000498265.2:p.Thr2720Ile
ENST00000425232.6:c.7997C>T	ENSP00000389014.2:p.Thr2666Ile
ENST00000508244.5:c.7997C>T	ENSP00000421690.1:p.Thr2666Ile
ENST00000509849.5:c.5171C>T	ENSP00000426337.1:p.Thr1724Ile
ENST00000509957.5:n.401C>T
ENST00000511210.5:n.450C>T
ENST00000511824.2:c.1273C>T
ENST00000514429.5:c.5195C>T	ENSP00000424223.1:p.Thr1732Ile
ENST00000515380.1:n.411C>T
NM_023073.3:c.7997C>T	NP_075561.3:p.Thr2666Ile
XM_005248345.2:c.8159C>T	XP_005248402.1:p.Thr2720Ile
XM_005248346.2:c.8156C>T	XP_005248403.1:p.Thr2719Ile
XM_005248347.2:c.8156C>T	XP_005248404.1:p.Thr2719Ile
XM_005248349.2:c.8048C>T	XP_005248406.1:p.Thr2683Ile
XM_005248350.2:c.8030C>T	XP_005248407.1:p.Thr2677Ile
XM_005248353.3:c.4802C>T	XP_005248410.1:p.Thr1601Ile
XM_006714489.2:c.8159C>T	XP_006714552.1:p.Thr2720Ile
XM_006714491.2:c.2732C>T	XP_006714554.1:p.Thr911Ile
XM_011514085.1:c.8159C>T	XP_011512387.1:p.Thr2720Ile
XM_011514086.1:c.8159C>T	XP_011512388.1:p.Thr2720Ile
XM_011514087.1:c.8105C>T	XP_011512389.1:p.Thr2702Ile
XM_011514088.1:c.8051C>T	XP_011512390.1:p.Thr2684Ile
XM_011514089.1:c.8159C>T	XP_011512391.1:p.Thr2720Ile
XM_011514090.1:c.7841C>T	XP_011512392.1:p.Thr2614Ile
XM_011514091.1:c.7487C>T	XP_011512393.1:p.Thr2496Ile
XM_011514092.1:c.8159C>T	XP_011512394.1:p.Thr2720Ile
XM_011514094.1:c.5384C>T	XP_011512396.1:p.Thr1795Ile
XR_427661.2:n.8334C>T
XR_925644.1:n.8334C>T
XM_005248345.4:c.8159C>T	XP_005248402.1:p.Thr2720Ile
XM_005248346.4:c.8156C>T	XP_005248403.1:p.Thr2719Ile
XM_005248347.4:c.8156C>T	XP_005248404.1:p.Thr2719Ile
XM_005248349.4:c.8048C>T	XP_005248406.1:p.Thr2683Ile
XM_005248350.4:c.8030C>T	XP_005248407.1:p.Thr2677Ile
XM_006714491.3:c.2732C>T	XP_006714554.1:p.Thr911Ile
XM_011514085.3:c.8159C>T	XP_011512387.1:p.Thr2720Ile
XM_011514086.3:c.8159C>T	XP_011512388.1:p.Thr2720Ile
XM_011514087.2:c.8105C>T	XP_011512389.1:p.Thr2702Ile
XM_011514088.2:c.8051C>T	XP_011512390.1:p.Thr2684Ile
XM_011514089.2:c.8159C>T	XP_011512391.1:p.Thr2720Ile
XM_011514090.3:c.7841C>T	XP_011512392.1:p.Thr2614Ile
XM_011514092.2:c.8159C>T	XP_011512394.1:p.Thr2720Ile
XM_011514094.2:c.5384C>T	XP_011512396.1:p.Thr1795Ile
XM_017009760.1:c.7970C>T	XP_016865249.1:p.Thr2657Ile
XM_017009761.2:c.7970C>T	XP_016865250.1:p.Thr2657Ile
XM_017009763.1:c.7166C>T	XP_016865252.1:p.Thr2389Ile
XM_017009765.1:c.6971C>T	XP_016865254.1:p.Thr2324Ile
XM_017009766.1:c.4802C>T	XP_016865255.1:p.Thr1601Ile
XM_024446183.1:c.7970C>T	XP_024301951.1:p.Thr2657Ile
XM_024446184.1:c.7841C>T	XP_024301952.1:p.Thr2614Ile
XM_024446185.1:c.7487C>T	XP_024301953.1:p.Thr2496Ile
XM_024446186.1:c.7166C>T	XP_024301954.1:p.Thr2389Ile
XR_001742208.1:n.8328C>T
XR_002956171.1:n.8274C>T
XR_925644.2:n.8383C>T
NM_001384732.1:c.8159C>T MANE Select	NP_001371661.1:p.Thr2720Ile
NM_023073.4:c.7997C>T	NP_075561.3:p.Thr2666Ile