Canonical Allele Identifier: CA3238292

Gene: CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37170228A>G , CM000667.2:g.37170228A>G	GRCh38
NC_000005.9:g.37170330A>G , CM000667.1:g.37170330A>G	GRCh37
NC_000005.8:g.37206087A>G	NCBI36
NG_032772.1:g.84201T>C
NG_032772.2:g.84201T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001384732.1:c.6275T>C MANE Select	NP_001371661.1:p.Leu2092Ser
ENST00000651892.2:c.6275T>C MANE Select	ENSP00000498265.2:p.Leu2092Ser
NM_023073.3:c.6275T>C	NP_075561.3:p.Leu2092Ser
NM_023073.4:c.6275T>C	NP_075561.3:p.Leu2092Ser
ENST00000425232.6:c.6275T>C	ENSP00000389014.2:p.Leu2092Ser
ENST00000425232.7:c.5779T>C
ENST00000508244.5:c.6275T>C	ENSP00000421690.1:p.Leu2092Ser
ENST00000509849.5:c.3287T>C	ENSP00000426337.1:p.Leu1096Ser
ENST00000511781.1:n.488T>C
ENST00000514429.5:c.3419T>C	ENSP00000424223.1:p.Leu1140Ser
ENST00000676304.1:n.1001T>C
XM_005248345.2:c.6275T>C	XP_005248402.1:p.Leu2092Ser
XM_005248345.4:c.6275T>C	XP_005248402.1:p.Leu2092Ser
XM_005248346.2:c.6272T>C	XP_005248403.1:p.Leu2091Ser
XM_005248346.4:c.6272T>C	XP_005248403.1:p.Leu2091Ser
XM_005248347.2:c.6272T>C	XP_005248404.1:p.Leu2091Ser
XM_005248347.4:c.6272T>C	XP_005248404.1:p.Leu2091Ser
XM_005248349.2:c.6272T>C	XP_005248406.1:p.Leu2091Ser
XM_005248349.4:c.6272T>C	XP_005248406.1:p.Leu2091Ser
XM_005248350.2:c.6146T>C	XP_005248407.1:p.Leu2049Ser
XM_005248350.4:c.6146T>C	XP_005248407.1:p.Leu2049Ser
XM_005248353.3:c.2918T>C	XP_005248410.1:p.Leu973Ser
XM_006714489.2:c.6275T>C	XP_006714552.1:p.Leu2092Ser
XM_006714491.2:c.848T>C	XP_006714554.1:p.Leu283Ser
XM_006714491.3:c.848T>C	XP_006714554.1:p.Leu283Ser
XM_011514085.1:c.6275T>C	XP_011512387.1:p.Leu2092Ser
XM_011514085.3:c.6275T>C	XP_011512387.1:p.Leu2092Ser
XM_011514086.1:c.6275T>C	XP_011512388.1:p.Leu2092Ser
XM_011514086.3:c.6275T>C	XP_011512388.1:p.Leu2092Ser
XM_011514087.1:c.6275T>C	XP_011512389.1:p.Leu2092Ser
XM_011514087.2:c.6275T>C	XP_011512389.1:p.Leu2092Ser
XM_011514088.1:c.6275T>C	XP_011512390.1:p.Leu2092Ser
XM_011514088.2:c.6275T>C	XP_011512390.1:p.Leu2092Ser
XM_011514089.1:c.6275T>C	XP_011512391.1:p.Leu2092Ser
XM_011514089.2:c.6275T>C	XP_011512391.1:p.Leu2092Ser
XM_011514090.1:c.5957T>C	XP_011512392.1:p.Leu1986Ser
XM_011514090.3:c.5957T>C	XP_011512392.1:p.Leu1986Ser
XM_011514091.1:c.5603T>C	XP_011512393.1:p.Leu1868Ser
XM_011514092.1:c.6275T>C	XP_011512394.1:p.Leu2092Ser
XM_011514092.2:c.6275T>C	XP_011512394.1:p.Leu2092Ser
XM_011514093.1:c.6275T>C	XP_011512395.1:p.Leu2092Ser
XM_011514094.1:c.3500T>C	XP_011512396.1:p.Leu1167Ser
XM_011514094.2:c.3500T>C	XP_011512396.1:p.Leu1167Ser
XM_017009760.1:c.6086T>C	XP_016865249.1:p.Leu2029Ser
XM_017009761.2:c.6086T>C	XP_016865250.1:p.Leu2029Ser
XM_017009763.1:c.5282T>C	XP_016865252.1:p.Leu1761Ser
XM_017009765.1:c.5087T>C	XP_016865254.1:p.Leu1696Ser
XM_017009766.1:c.2918T>C	XP_016865255.1:p.Leu973Ser
XM_024446183.1:c.6086T>C	XP_024301951.1:p.Leu2029Ser
XM_024446184.1:c.5957T>C	XP_024301952.1:p.Leu1986Ser
XM_024446185.1:c.5603T>C	XP_024301953.1:p.Leu1868Ser
XM_024446186.1:c.5282T>C	XP_024301954.1:p.Leu1761Ser
XR_001742208.1:n.6499T>C
XR_002956171.1:n.6499T>C
XR_427661.2:n.6450T>C
XR_925644.1:n.6450T>C
XR_925644.2:n.6499T>C