Canonical Allele Identifier: CA359496597

Gene: CPLANE1

Linked Data

• COSMIC: COSM6038799 ; COSM6038800
• MyVariant Identifiers: chr5:g.37122542C>A (hg19) ; chr5:g.37122440C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37122440C>A , CM000667.2:g.37122440C>A	GRCh38
NC_000005.9:g.37122542C>A , CM000667.1:g.37122542C>A	GRCh37
NC_000005.8:g.37158299C>A	NCBI36
NG_032772.1:g.131989G>T
NG_032772.2:g.131989G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651892.2:c.9007G>T MANE Select	ENSP00000498265.2:p.Glu3003Ter
ENST00000676160.1:n.868G>T
ENST00000425232.6:c.8845G>T	ENSP00000389014.2:p.Glu2949Ter
ENST00000508244.5:c.8845G>T	ENSP00000421690.1:p.Glu2949Ter
ENST00000509849.5:c.6019G>T	ENSP00000426337.1:n.6019G>T
ENST00000512288.5:n.342-656G>T
ENST00000514429.5:c.6043G>T	ENSP00000424223.1:p.Glu2015Ter
NM_023073.3:c.8845G>T	NP_075561.3:p.Glu2949Ter
XM_005248345.2:c.9007G>T	XP_005248402.1:p.Glu3003Ter
XM_005248346.2:c.9004G>T	XP_005248403.1:p.Glu3002Ter
XM_005248347.2:c.9004G>T	XP_005248404.1:p.Glu3002Ter
XM_005248349.2:c.8896G>T	XP_005248406.1:p.Glu2966Ter
XM_005248350.2:c.8878G>T	XP_005248407.1:p.Glu2960Ter
XM_005248353.3:c.5650G>T	XP_005248410.1:p.Glu1884Ter
XM_006714489.2:c.9007G>T	XP_006714552.1:p.Glu3003Ter
XM_006714491.2:c.3580G>T	XP_006714554.1:p.Glu1194Ter
XM_011514085.1:c.9007G>T	XP_011512387.1:p.Glu3003Ter
XM_011514086.1:c.9007G>T	XP_011512388.1:p.Glu3003Ter
XM_011514087.1:c.8953G>T	XP_011512389.1:p.Glu2985Ter
XM_011514088.1:c.8899G>T	XP_011512390.1:p.Glu2967Ter
XM_011514089.1:c.9007G>T	XP_011512391.1:p.Glu3003Ter
XM_011514090.1:c.8689G>T	XP_011512392.1:p.Glu2897Ter
XM_011514091.1:c.8335G>T	XP_011512393.1:p.Glu2779Ter
XM_011514092.1:c.9007G>T	XP_011512394.1:p.Glu3003Ter
XM_011514094.1:c.6232G>T	XP_011512396.1:p.Glu2078Ter
XR_427661.2:n.9182G>T
XR_925644.1:n.9182G>T
XM_005248345.4:c.9007G>T	XP_005248402.1:p.Glu3003Ter
XM_005248346.4:c.9004G>T	XP_005248403.1:p.Glu3002Ter
XM_005248347.4:c.9004G>T	XP_005248404.1:p.Glu3002Ter
XM_005248349.4:c.8896G>T	XP_005248406.1:p.Glu2966Ter
XM_005248350.4:c.8878G>T	XP_005248407.1:p.Glu2960Ter
XM_006714491.3:c.3580G>T	XP_006714554.1:p.Glu1194Ter
XM_011514085.3:c.9007G>T	XP_011512387.1:p.Glu3003Ter
XM_011514086.3:c.9007G>T	XP_011512388.1:p.Glu3003Ter
XM_011514087.2:c.8953G>T	XP_011512389.1:p.Glu2985Ter
XM_011514088.2:c.8899G>T	XP_011512390.1:p.Glu2967Ter
XM_011514089.2:c.9007G>T	XP_011512391.1:p.Glu3003Ter
XM_011514090.3:c.8689G>T	XP_011512392.1:p.Glu2897Ter
XM_011514092.2:c.9007G>T	XP_011512394.1:p.Glu3003Ter
XM_011514094.2:c.6232G>T	XP_011512396.1:p.Glu2078Ter
XM_017009760.1:c.8818G>T	XP_016865249.1:p.Glu2940Ter
XM_017009761.2:c.8818G>T	XP_016865250.1:p.Glu2940Ter
XM_017009763.1:c.8014G>T	XP_016865252.1:p.Glu2672Ter
XM_017009765.1:c.7819G>T	XP_016865254.1:p.Glu2607Ter
XM_017009766.1:c.5650G>T	XP_016865255.1:p.Glu1884Ter
XM_024446183.1:c.8818G>T	XP_024301951.1:p.Glu2940Ter
XM_024446184.1:c.8689G>T	XP_024301952.1:p.Glu2897Ter
XM_024446185.1:c.8335G>T	XP_024301953.1:p.Glu2779Ter
XM_024446186.1:c.8014G>T	XP_024301954.1:p.Glu2672Ter
XR_925644.2:n.9231G>T
NM_001384732.1:c.9007G>T MANE Select	NP_001371661.1:p.Glu3003Ter
NM_023073.4:c.8845G>T	NP_075561.3:p.Glu2949Ter