Canonical Allele Identifier: CA2739880841

Gene: CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37157353A>C , CM000667.2:g.37157353A>C	GRCh38
NC_000005.9:g.37157455A>C , CM000667.1:g.37157455A>C	GRCh37
NC_000005.8:g.37193212A>C	NCBI36
NG_032772.1:g.97076T>G
NG_032772.2:g.97076T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1078T>G
ENST00000651892.2:c.8079T>G MANE Select	ENSP00000498265.2:p.Ser2693Arg
ENST00000425232.6:c.7957+317T>G	ENSP00000389014.2:n.7957+317T>G
ENST00000508244.5:c.7957+317T>G	ENSP00000421690.1:n.7957+317T>G
ENST00000509849.5:c.5091T>G	ENSP00000426337.1:p.Ser1697Arg
ENST00000509957.5:n.321T>G
ENST00000511210.5:n.370T>G
ENST00000511824.2:c.1193T>G
ENST00000514429.5:c.5155+317T>G	ENSP00000424223.1:n.5155+317T>G
ENST00000515380.1:n.331T>G
NM_023073.3:c.7957+317T>G	NP_075561.3:n.7957+317T>G
XM_005248345.2:c.8079T>G	XP_005248402.1:p.Ser2693Arg
XM_005248346.2:c.8076T>G	XP_005248403.1:p.Ser2692Arg
XM_005248347.2:c.8076T>G	XP_005248404.1:p.Ser2692Arg
XM_005248349.2:c.8008+317T>G	XP_005248406.1:n.8008+317T>G
XM_005248350.2:c.7950T>G	XP_005248407.1:p.Ser2650Arg
XM_005248353.3:c.4722T>G	XP_005248410.1:p.Ser1574Arg
XM_006714489.2:c.8079T>G	XP_006714552.1:p.Ser2693Arg
XM_006714491.2:c.2652T>G	XP_006714554.1:p.Ser884Arg
XM_011514085.1:c.8079T>G	XP_011512387.1:p.Ser2693Arg
XM_011514086.1:c.8079T>G	XP_011512388.1:p.Ser2693Arg
XM_011514087.1:c.8025T>G	XP_011512389.1:p.Ser2675Arg
XM_011514088.1:c.8011+317T>G	XP_011512390.1:n.8011+317T>G
XM_011514089.1:c.8079T>G	XP_011512391.1:p.Ser2693Arg
XM_011514090.1:c.7761T>G	XP_011512392.1:p.Ser2587Arg
XM_011514091.1:c.7407T>G	XP_011512393.1:p.Ser2469Arg
XM_011514092.1:c.8079T>G	XP_011512394.1:p.Ser2693Arg
XM_011514094.1:c.5304T>G	XP_011512396.1:p.Ser1768Arg
XR_427661.2:n.8254T>G
XR_925644.1:n.8254T>G
XM_005248345.4:c.8079T>G	XP_005248402.1:p.Ser2693Arg
XM_005248346.4:c.8076T>G	XP_005248403.1:p.Ser2692Arg
XM_005248347.4:c.8076T>G	XP_005248404.1:p.Ser2692Arg
XM_005248349.4:c.8008+317T>G	XP_005248406.1:n.8008+317T>G
XM_005248350.4:c.7950T>G	XP_005248407.1:p.Ser2650Arg
XM_006714491.3:c.2652T>G	XP_006714554.1:p.Ser884Arg
XM_011514085.3:c.8079T>G	XP_011512387.1:p.Ser2693Arg
XM_011514086.3:c.8079T>G	XP_011512388.1:p.Ser2693Arg
XM_011514087.2:c.8025T>G	XP_011512389.1:p.Ser2675Arg
XM_011514088.2:c.8011+317T>G	XP_011512390.1:n.8011+317T>G
XM_011514089.2:c.8079T>G	XP_011512391.1:p.Ser2693Arg
XM_011514090.3:c.7761T>G	XP_011512392.1:p.Ser2587Arg
XM_011514092.2:c.8079T>G	XP_011512394.1:p.Ser2693Arg
XM_011514094.2:c.5304T>G	XP_011512396.1:p.Ser1768Arg
XM_017009760.1:c.7890T>G	XP_016865249.1:p.Ser2630Arg
XM_017009761.2:c.7890T>G	XP_016865250.1:p.Ser2630Arg
XM_017009763.1:c.7086T>G	XP_016865252.1:p.Ser2362Arg
XM_017009765.1:c.6891T>G	XP_016865254.1:p.Ser2297Arg
XM_017009766.1:c.4722T>G	XP_016865255.1:p.Ser1574Arg
XM_024446183.1:c.7890T>G	XP_024301951.1:p.Ser2630Arg
XM_024446184.1:c.7761T>G	XP_024301952.1:p.Ser2587Arg
XM_024446185.1:c.7407T>G	XP_024301953.1:p.Ser2469Arg
XM_024446186.1:c.7086T>G	XP_024301954.1:p.Ser2362Arg
XR_001742208.1:n.8248T>G
XR_002956171.1:n.8194T>G
XR_925644.2:n.8303T>G
NM_001384732.1:c.8079T>G MANE Select	NP_001371661.1:p.Ser2693Arg
NM_023073.4:c.7957+317T>G	NP_075561.3:n.7957+317T>G