Canonical Allele Identifier: CA117056579

Gene: CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37121763A>G , CM000667.2:g.37121763A>G	GRCh38
NC_000005.9:g.37121865A>G , CM000667.1:g.37121865A>G	GRCh37
NC_000005.8:g.37157622A>G	NCBI36
NG_032772.1:g.132666T>C
NG_032772.2:g.132666T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001384732.1:c.9039T>C MANE Select	NP_001371661.1:p.Tyr3013=
ENST00000651892.2:c.9039T>C MANE Select	ENSP00000498265.2:p.Tyr3013=
NM_023073.3:c.8877T>C	NP_075561.3:p.Tyr2959=
NM_023073.4:c.8877T>C	NP_075561.3:p.Tyr2959=
ENST00000425232.6:c.8877T>C	ENSP00000389014.2:p.Tyr2959=
ENST00000508244.5:c.8877T>C	ENSP00000421690.1:p.Tyr2959=
ENST00000509849.5:c.6051T>C	ENSP00000426337.1:n.6051T>C
ENST00000512288.5:n.363T>C
ENST00000514429.5:c.6075T>C	ENSP00000424223.1:p.Tyr2025=
ENST00000676160.1:n.1545T>C
XM_005248345.2:c.9039T>C	XP_005248402.1:p.Tyr3013=
XM_005248345.4:c.9039T>C	XP_005248402.1:p.Tyr3013=
XM_005248346.2:c.9036T>C	XP_005248403.1:p.Tyr3012=
XM_005248346.4:c.9036T>C	XP_005248403.1:p.Tyr3012=
XM_005248347.2:c.9036T>C	XP_005248404.1:p.Tyr3012=
XM_005248347.4:c.9036T>C	XP_005248404.1:p.Tyr3012=
XM_005248349.2:c.8928T>C	XP_005248406.1:p.Tyr2976=
XM_005248349.4:c.8928T>C	XP_005248406.1:p.Tyr2976=
XM_005248350.2:c.8910T>C	XP_005248407.1:p.Tyr2970=
XM_005248350.4:c.8910T>C	XP_005248407.1:p.Tyr2970=
XM_005248353.3:c.5682T>C	XP_005248410.1:p.Tyr1894=
XM_006714489.2:c.9039T>C	XP_006714552.1:p.Tyr3013=
XM_006714491.2:c.3612T>C	XP_006714554.1:p.Tyr1204=
XM_006714491.3:c.3612T>C	XP_006714554.1:p.Tyr1204=
XM_011514085.1:c.9039T>C	XP_011512387.1:p.Tyr3013=
XM_011514085.3:c.9039T>C	XP_011512387.1:p.Tyr3013=
XM_011514086.1:c.9039T>C	XP_011512388.1:p.Tyr3013=
XM_011514086.3:c.9039T>C	XP_011512388.1:p.Tyr3013=
XM_011514087.1:c.8985T>C	XP_011512389.1:p.Tyr2995=
XM_011514087.2:c.8985T>C	XP_011512389.1:p.Tyr2995=
XM_011514088.1:c.8931T>C	XP_011512390.1:p.Tyr2977=
XM_011514088.2:c.8931T>C	XP_011512390.1:p.Tyr2977=
XM_011514089.1:c.9039T>C	XP_011512391.1:p.Tyr3013=
XM_011514089.2:c.9039T>C	XP_011512391.1:p.Tyr3013=
XM_011514090.1:c.8721T>C	XP_011512392.1:p.Tyr2907=
XM_011514090.3:c.8721T>C	XP_011512392.1:p.Tyr2907=
XM_011514091.1:c.8367T>C	XP_011512393.1:p.Tyr2789=
XM_011514094.1:c.6264T>C	XP_011512396.1:p.Tyr2088=
XM_011514094.2:c.6264T>C	XP_011512396.1:p.Tyr2088=
XM_017009760.1:c.8850T>C	XP_016865249.1:p.Tyr2950=
XM_017009761.2:c.8850T>C	XP_016865250.1:p.Tyr2950=
XM_017009763.1:c.8046T>C	XP_016865252.1:p.Tyr2682=
XM_017009765.1:c.7851T>C	XP_016865254.1:p.Tyr2617=
XM_017009766.1:c.5682T>C	XP_016865255.1:p.Tyr1894=
XM_024446183.1:c.8850T>C	XP_024301951.1:p.Tyr2950=
XM_024446184.1:c.8721T>C	XP_024301952.1:p.Tyr2907=
XM_024446185.1:c.8367T>C	XP_024301953.1:p.Tyr2789=
XM_024446186.1:c.8046T>C	XP_024301954.1:p.Tyr2682=
XR_427661.2:n.9214T>C
XR_925644.1:n.9214T>C
XR_925644.2:n.9263T>C