Canonical Allele Identifier: CA359498814

Gene: CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37125400C>A (hg19) ; chr5:g.37125298C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37125298C>A , CM000667.2:g.37125298C>A	GRCh38
NC_000005.9:g.37125400C>A , CM000667.1:g.37125400C>A	GRCh37
NC_000005.8:g.37161157C>A	NCBI36
NG_032772.1:g.129131G>T
NG_032772.2:g.129131G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1903G>T
ENST00000651892.2:c.8904G>T MANE Select	ENSP00000498265.2:p.Glu2968Asp
ENST00000676160.1:n.765G>T
ENST00000425232.6:c.8742G>T	ENSP00000389014.2:p.Glu2914Asp
ENST00000508244.5:c.8742G>T	ENSP00000421690.1:p.Glu2914Asp
ENST00000509849.5:c.5916G>T	ENSP00000426337.1:n.5916G>T
ENST00000509957.5:n.4085G>T
ENST00000512288.5:n.342-3514G>T
ENST00000514429.5:c.5940G>T	ENSP00000424223.1:p.Glu1980Asp
NM_023073.3:c.8742G>T	NP_075561.3:p.Glu2914Asp
XM_005248345.2:c.8904G>T	XP_005248402.1:p.Glu2968Asp
XM_005248346.2:c.8901G>T	XP_005248403.1:p.Glu2967Asp
XM_005248347.2:c.8901G>T	XP_005248404.1:p.Glu2967Asp
XM_005248349.2:c.8793G>T	XP_005248406.1:p.Glu2931Asp
XM_005248350.2:c.8775G>T	XP_005248407.1:p.Glu2925Asp
XM_005248353.3:c.5547G>T	XP_005248410.1:p.Glu1849Asp
XM_006714489.2:c.8904G>T	XP_006714552.1:p.Glu2968Asp
XM_006714491.2:c.3477G>T	XP_006714554.1:p.Glu1159Asp
XM_011514085.1:c.8904G>T	XP_011512387.1:p.Glu2968Asp
XM_011514086.1:c.8904G>T	XP_011512388.1:p.Glu2968Asp
XM_011514087.1:c.8850G>T	XP_011512389.1:p.Glu2950Asp
XM_011514088.1:c.8796G>T	XP_011512390.1:p.Glu2932Asp
XM_011514089.1:c.8904G>T	XP_011512391.1:p.Glu2968Asp
XM_011514090.1:c.8586G>T	XP_011512392.1:p.Glu2862Asp
XM_011514091.1:c.8232G>T	XP_011512393.1:p.Glu2744Asp
XM_011514092.1:c.8904G>T	XP_011512394.1:p.Glu2968Asp
XM_011514094.1:c.6129G>T	XP_011512396.1:p.Glu2043Asp
XR_427661.2:n.9079G>T
XR_925644.1:n.9079G>T
XM_005248345.4:c.8904G>T	XP_005248402.1:p.Glu2968Asp
XM_005248346.4:c.8901G>T	XP_005248403.1:p.Glu2967Asp
XM_005248347.4:c.8901G>T	XP_005248404.1:p.Glu2967Asp
XM_005248349.4:c.8793G>T	XP_005248406.1:p.Glu2931Asp
XM_005248350.4:c.8775G>T	XP_005248407.1:p.Glu2925Asp
XM_006714491.3:c.3477G>T	XP_006714554.1:p.Glu1159Asp
XM_011514085.3:c.8904G>T	XP_011512387.1:p.Glu2968Asp
XM_011514086.3:c.8904G>T	XP_011512388.1:p.Glu2968Asp
XM_011514087.2:c.8850G>T	XP_011512389.1:p.Glu2950Asp
XM_011514088.2:c.8796G>T	XP_011512390.1:p.Glu2932Asp
XM_011514089.2:c.8904G>T	XP_011512391.1:p.Glu2968Asp
XM_011514090.3:c.8586G>T	XP_011512392.1:p.Glu2862Asp
XM_011514092.2:c.8904G>T	XP_011512394.1:p.Glu2968Asp
XM_011514094.2:c.6129G>T	XP_011512396.1:p.Glu2043Asp
XM_017009760.1:c.8715G>T	XP_016865249.1:p.Glu2905Asp
XM_017009761.2:c.8715G>T	XP_016865250.1:p.Glu2905Asp
XM_017009763.1:c.7911G>T	XP_016865252.1:p.Glu2637Asp
XM_017009765.1:c.7716G>T	XP_016865254.1:p.Glu2572Asp
XM_017009766.1:c.5547G>T	XP_016865255.1:p.Glu1849Asp
XM_024446183.1:c.8715G>T	XP_024301951.1:p.Glu2905Asp
XM_024446184.1:c.8586G>T	XP_024301952.1:p.Glu2862Asp
XM_024446185.1:c.8232G>T	XP_024301953.1:p.Glu2744Asp
XM_024446186.1:c.7911G>T	XP_024301954.1:p.Glu2637Asp
XR_925644.2:n.9128G>T
NM_001384732.1:c.8904G>T MANE Select	NP_001371661.1:p.Glu2968Asp
NM_023073.4:c.8742G>T	NP_075561.3:p.Glu2914Asp