Canonical Allele Identifier: CA359473603
Gene: CPLANE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37153745C>T , CM000667.2:g.37153745C>T GRCh38
NC_000005.9:g.37153847C>T , CM000667.1:g.37153847C>T GRCh37
NC_000005.8:g.37189604C>T NCBI36
NG_032772.1:g.100684G>A
NG_032772.2:g.100684G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000510830.2:n.1367G>A
ENST00000651892.2:c.8368G>A MANE Select ENSP00000498265.2:p.Asp2790Asn
ENST00000425232.6:c.8206G>A ENSP00000389014.2:p.Asp2736Asn
ENST00000508244.5:c.8206G>A ENSP00000421690.1:p.Asp2736Asn
ENST00000508405.1:n.100G>A
ENST00000509849.5:c.5380G>A ENSP00000426337.1:p.Asp1794Asn
ENST00000509957.5:n.610G>A
ENST00000511824.2:c.1482G>A
ENST00000514429.5:c.5404G>A ENSP00000424223.1:p.Asp1802Asn
NM_023073.3:c.8206G>A NP_075561.3:p.Asp2736Asn
XM_005248345.2:c.8368G>A XP_005248402.1:p.Asp2790Asn
XM_005248346.2:c.8365G>A XP_005248403.1:p.Asp2789Asn
XM_005248347.2:c.8365G>A XP_005248404.1:p.Asp2789Asn
XM_005248349.2:c.8257G>A XP_005248406.1:p.Asp2753Asn
XM_005248350.2:c.8239G>A XP_005248407.1:p.Asp2747Asn
XM_005248353.3:c.5011G>A XP_005248410.1:p.Asp1671Asn
XM_006714489.2:c.8368G>A XP_006714552.1:p.Asp2790Asn
XM_006714491.2:c.2941G>A XP_006714554.1:p.Asp981Asn
XM_011514085.1:c.8368G>A XP_011512387.1:p.Asp2790Asn
XM_011514086.1:c.8368G>A XP_011512388.1:p.Asp2790Asn
XM_011514087.1:c.8314G>A XP_011512389.1:p.Asp2772Asn
XM_011514088.1:c.8260G>A XP_011512390.1:p.Asp2754Asn
XM_011514089.1:c.8368G>A XP_011512391.1:p.Asp2790Asn
XM_011514090.1:c.8050G>A XP_011512392.1:p.Asp2684Asn
XM_011514091.1:c.7696G>A XP_011512393.1:p.Asp2566Asn
XM_011514092.1:c.8368G>A XP_011512394.1:p.Asp2790Asn
XM_011514094.1:c.5593G>A XP_011512396.1:p.Asp1865Asn
XR_427661.2:n.8543G>A
XR_925644.1:n.8543G>A
XM_005248345.4:c.8368G>A XP_005248402.1:p.Asp2790Asn
XM_005248346.4:c.8365G>A XP_005248403.1:p.Asp2789Asn
XM_005248347.4:c.8365G>A XP_005248404.1:p.Asp2789Asn
XM_005248349.4:c.8257G>A XP_005248406.1:p.Asp2753Asn
XM_005248350.4:c.8239G>A XP_005248407.1:p.Asp2747Asn
XM_006714491.3:c.2941G>A XP_006714554.1:p.Asp981Asn
XM_011514085.3:c.8368G>A XP_011512387.1:p.Asp2790Asn
XM_011514086.3:c.8368G>A XP_011512388.1:p.Asp2790Asn
XM_011514087.2:c.8314G>A XP_011512389.1:p.Asp2772Asn
XM_011514088.2:c.8260G>A XP_011512390.1:p.Asp2754Asn
XM_011514089.2:c.8368G>A XP_011512391.1:p.Asp2790Asn
XM_011514090.3:c.8050G>A XP_011512392.1:p.Asp2684Asn
XM_011514092.2:c.8368G>A XP_011512394.1:p.Asp2790Asn
XM_011514094.2:c.5593G>A XP_011512396.1:p.Asp1865Asn
XM_017009760.1:c.8179G>A XP_016865249.1:p.Asp2727Asn
XM_017009761.2:c.8179G>A XP_016865250.1:p.Asp2727Asn
XM_017009763.1:c.7375G>A XP_016865252.1:p.Asp2459Asn
XM_017009765.1:c.7180G>A XP_016865254.1:p.Asp2394Asn
XM_017009766.1:c.5011G>A XP_016865255.1:p.Asp1671Asn
XM_024446183.1:c.8179G>A XP_024301951.1:p.Asp2727Asn
XM_024446184.1:c.8050G>A XP_024301952.1:p.Asp2684Asn
XM_024446185.1:c.7696G>A XP_024301953.1:p.Asp2566Asn
XM_024446186.1:c.7375G>A XP_024301954.1:p.Asp2459Asn
XR_001742208.1:n.8537G>A
XR_002956171.1:n.8483G>A
XR_925644.2:n.8592G>A
NM_001384732.1:c.8368G>A MANE Select NP_001371661.1:p.Asp2790Asn
NM_023073.4:c.8206G>A NP_075561.3:p.Asp2736Asn