Canonical Allele Identifier: CA3238083

Gene: CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37167080G>A , CM000667.2:g.37167080G>A	GRCh38
NC_000005.9:g.37167182G>A , CM000667.1:g.37167182G>A	GRCh37
NC_000005.8:g.37202939G>A	NCBI36
NG_032772.1:g.87349C>T
NG_032772.2:g.87349C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001384732.1:c.7367C>T MANE Select	NP_001371661.1:p.Pro2456Leu
ENST00000651892.2:c.7367C>T MANE Select	ENSP00000498265.2:p.Pro2456Leu
NM_023073.3:c.7367C>T	NP_075561.3:p.Pro2456Leu
NM_023073.4:c.7367C>T	NP_075561.3:p.Pro2456Leu
ENST00000425232.6:c.7367C>T	ENSP00000389014.2:p.Pro2456Leu
ENST00000508244.5:c.7367C>T	ENSP00000421690.1:p.Pro2456Leu
ENST00000509849.5:c.4379C>T	ENSP00000426337.1:p.Pro1460Leu
ENST00000511824.2:c.439C>T
ENST00000514429.5:c.4511C>T	ENSP00000424223.1:p.Pro1504Leu
ENST00000675149.1:n.487C>T
XM_005248345.2:c.7367C>T	XP_005248402.1:p.Pro2456Leu
XM_005248345.4:c.7367C>T	XP_005248402.1:p.Pro2456Leu
XM_005248346.2:c.7364C>T	XP_005248403.1:p.Pro2455Leu
XM_005248346.4:c.7364C>T	XP_005248403.1:p.Pro2455Leu
XM_005248347.2:c.7364C>T	XP_005248404.1:p.Pro2455Leu
XM_005248347.4:c.7364C>T	XP_005248404.1:p.Pro2455Leu
XM_005248349.2:c.7364C>T	XP_005248406.1:p.Pro2455Leu
XM_005248349.4:c.7364C>T	XP_005248406.1:p.Pro2455Leu
XM_005248350.2:c.7238C>T	XP_005248407.1:p.Pro2413Leu
XM_005248350.4:c.7238C>T	XP_005248407.1:p.Pro2413Leu
XM_005248353.3:c.4010C>T	XP_005248410.1:p.Pro1337Leu
XM_006714489.2:c.7367C>T	XP_006714552.1:p.Pro2456Leu
XM_006714491.2:c.1940C>T	XP_006714554.1:p.Pro647Leu
XM_006714491.3:c.1940C>T	XP_006714554.1:p.Pro647Leu
XM_011514085.1:c.7367C>T	XP_011512387.1:p.Pro2456Leu
XM_011514085.3:c.7367C>T	XP_011512387.1:p.Pro2456Leu
XM_011514086.1:c.7367C>T	XP_011512388.1:p.Pro2456Leu
XM_011514086.3:c.7367C>T	XP_011512388.1:p.Pro2456Leu
XM_011514087.1:c.7367C>T	XP_011512389.1:p.Pro2456Leu
XM_011514087.2:c.7367C>T	XP_011512389.1:p.Pro2456Leu
XM_011514088.1:c.7367C>T	XP_011512390.1:p.Pro2456Leu
XM_011514088.2:c.7367C>T	XP_011512390.1:p.Pro2456Leu
XM_011514089.1:c.7367C>T	XP_011512391.1:p.Pro2456Leu
XM_011514089.2:c.7367C>T	XP_011512391.1:p.Pro2456Leu
XM_011514090.1:c.7049C>T	XP_011512392.1:p.Pro2350Leu
XM_011514090.3:c.7049C>T	XP_011512392.1:p.Pro2350Leu
XM_011514091.1:c.6695C>T	XP_011512393.1:p.Pro2232Leu
XM_011514092.1:c.7367C>T	XP_011512394.1:p.Pro2456Leu
XM_011514092.2:c.7367C>T	XP_011512394.1:p.Pro2456Leu
XM_011514093.1:c.7367C>T	XP_011512395.1:p.Pro2456Leu
XM_011514094.1:c.4592C>T	XP_011512396.1:p.Pro1531Leu
XM_011514094.2:c.4592C>T	XP_011512396.1:p.Pro1531Leu
XM_017009760.1:c.7178C>T	XP_016865249.1:p.Pro2393Leu
XM_017009761.2:c.7178C>T	XP_016865250.1:p.Pro2393Leu
XM_017009763.1:c.6374C>T	XP_016865252.1:p.Pro2125Leu
XM_017009765.1:c.6179C>T	XP_016865254.1:p.Pro2060Leu
XM_017009766.1:c.4010C>T	XP_016865255.1:p.Pro1337Leu
XM_024446183.1:c.7178C>T	XP_024301951.1:p.Pro2393Leu
XM_024446184.1:c.7049C>T	XP_024301952.1:p.Pro2350Leu
XM_024446185.1:c.6695C>T	XP_024301953.1:p.Pro2232Leu
XM_024446186.1:c.6374C>T	XP_024301954.1:p.Pro2125Leu
XR_001742208.1:n.7591C>T
XR_002956171.1:n.7591C>T
XR_427661.2:n.7542C>T
XR_925644.1:n.7542C>T
XR_925644.2:n.7591C>T