Canonical Allele Identifier: CA444096776
Gene: CPLANE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.37154058G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37153956G>A , CM000667.2:g.37153956G>A GRCh38
NC_000005.9:g.37154058G>A , CM000667.1:g.37154058G>A GRCh37
NC_000005.8:g.37189815G>A NCBI36
NG_032772.1:g.100473C>T
NG_032772.2:g.100473C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000510830.2:n.1156C>T
ENST00000651892.2:c.8157C>T MANE Select ENSP00000498265.2:p.Ser2719=
ENST00000425232.6:c.7995C>T ENSP00000389014.2:p.Ser2665=
ENST00000508244.5:c.7995C>T ENSP00000421690.1:p.Ser2665=
ENST00000509849.5:c.5169C>T ENSP00000426337.1:p.Ser1723=
ENST00000509957.5:n.399C>T
ENST00000511210.5:n.448C>T
ENST00000511824.2:c.1271C>T
ENST00000514429.5:c.5193C>T ENSP00000424223.1:p.Ser1731=
ENST00000515380.1:n.409C>T
NM_023073.3:c.7995C>T NP_075561.3:p.Ser2665=
XM_005248345.2:c.8157C>T XP_005248402.1:p.Ser2719=
XM_005248346.2:c.8154C>T XP_005248403.1:p.Ser2718=
XM_005248347.2:c.8154C>T XP_005248404.1:p.Ser2718=
XM_005248349.2:c.8046C>T XP_005248406.1:p.Ser2682=
XM_005248350.2:c.8028C>T XP_005248407.1:p.Ser2676=
XM_005248353.3:c.4800C>T XP_005248410.1:p.Ser1600=
XM_006714489.2:c.8157C>T XP_006714552.1:p.Ser2719=
XM_006714491.2:c.2730C>T XP_006714554.1:p.Ser910=
XM_011514085.1:c.8157C>T XP_011512387.1:p.Ser2719=
XM_011514086.1:c.8157C>T XP_011512388.1:p.Ser2719=
XM_011514087.1:c.8103C>T XP_011512389.1:p.Ser2701=
XM_011514088.1:c.8049C>T XP_011512390.1:p.Ser2683=
XM_011514089.1:c.8157C>T XP_011512391.1:p.Ser2719=
XM_011514090.1:c.7839C>T XP_011512392.1:p.Ser2613=
XM_011514091.1:c.7485C>T XP_011512393.1:p.Ser2495=
XM_011514092.1:c.8157C>T XP_011512394.1:p.Ser2719=
XM_011514094.1:c.5382C>T XP_011512396.1:p.Ser1794=
XR_427661.2:n.8332C>T
XR_925644.1:n.8332C>T
XM_005248345.4:c.8157C>T XP_005248402.1:p.Ser2719=
XM_005248346.4:c.8154C>T XP_005248403.1:p.Ser2718=
XM_005248347.4:c.8154C>T XP_005248404.1:p.Ser2718=
XM_005248349.4:c.8046C>T XP_005248406.1:p.Ser2682=
XM_005248350.4:c.8028C>T XP_005248407.1:p.Ser2676=
XM_006714491.3:c.2730C>T XP_006714554.1:p.Ser910=
XM_011514085.3:c.8157C>T XP_011512387.1:p.Ser2719=
XM_011514086.3:c.8157C>T XP_011512388.1:p.Ser2719=
XM_011514087.2:c.8103C>T XP_011512389.1:p.Ser2701=
XM_011514088.2:c.8049C>T XP_011512390.1:p.Ser2683=
XM_011514089.2:c.8157C>T XP_011512391.1:p.Ser2719=
XM_011514090.3:c.7839C>T XP_011512392.1:p.Ser2613=
XM_011514092.2:c.8157C>T XP_011512394.1:p.Ser2719=
XM_011514094.2:c.5382C>T XP_011512396.1:p.Ser1794=
XM_017009760.1:c.7968C>T XP_016865249.1:p.Ser2656=
XM_017009761.2:c.7968C>T XP_016865250.1:p.Ser2656=
XM_017009763.1:c.7164C>T XP_016865252.1:p.Ser2388=
XM_017009765.1:c.6969C>T XP_016865254.1:p.Ser2323=
XM_017009766.1:c.4800C>T XP_016865255.1:p.Ser1600=
XM_024446183.1:c.7968C>T XP_024301951.1:p.Ser2656=
XM_024446184.1:c.7839C>T XP_024301952.1:p.Ser2613=
XM_024446185.1:c.7485C>T XP_024301953.1:p.Ser2495=
XM_024446186.1:c.7164C>T XP_024301954.1:p.Ser2388=
XR_001742208.1:n.8326C>T
XR_002956171.1:n.8272C>T
XR_925644.2:n.8381C>T
NM_001384732.1:c.8157C>T MANE Select NP_001371661.1:p.Ser2719=
NM_023073.4:c.7995C>T NP_075561.3:p.Ser2665=