Canonical Allele Identifier: CA359476632
Community Standard Title: NM_001384732.1(CPLANE1):c.7402C>T (p.Gln2468Ter)
Gene: CPLANE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37165670G>A , CM000667.2:g.37165670G>A GRCh38
NC_000005.9:g.37165772G>A , CM000667.1:g.37165772G>A GRCh37
NC_000005.8:g.37201529G>A NCBI36
NG_032772.1:g.88759C>T
NG_032772.2:g.88759C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001384732.1:c.7402C>T MANE Select NP_001371661.1:p.Gln2468Ter
ENST00000651892.2:c.7402C>T MANE Select ENSP00000498265.2:p.Gln2468Ter
NM_023073.3:c.7402C>T NP_075561.3:p.Gln2468Ter
NM_023073.4:c.7402C>T NP_075561.3:p.Gln2468Ter
ENST00000425232.6:c.7402C>T ENSP00000389014.2:p.Gln2468Ter
ENST00000508244.5:c.7402C>T ENSP00000421690.1:p.Gln2468Ter
ENST00000509849.5:c.4414C>T ENSP00000426337.1:p.Gln1472Ter
ENST00000511824.2:c.474C>T
ENST00000514429.5:c.4546C>T ENSP00000424223.1:p.Gln1516Ter
ENST00000675149.1:n.522C>T
XM_005248345.2:c.7402C>T XP_005248402.1:p.Gln2468Ter
XM_005248345.4:c.7402C>T XP_005248402.1:p.Gln2468Ter
XM_005248346.2:c.7399C>T XP_005248403.1:p.Gln2467Ter
XM_005248346.4:c.7399C>T XP_005248403.1:p.Gln2467Ter
XM_005248347.2:c.7399C>T XP_005248404.1:p.Gln2467Ter
XM_005248347.4:c.7399C>T XP_005248404.1:p.Gln2467Ter
XM_005248349.2:c.7399C>T XP_005248406.1:p.Gln2467Ter
XM_005248349.4:c.7399C>T XP_005248406.1:p.Gln2467Ter
XM_005248350.2:c.7273C>T XP_005248407.1:p.Gln2425Ter
XM_005248350.4:c.7273C>T XP_005248407.1:p.Gln2425Ter
XM_005248353.3:c.4045C>T XP_005248410.1:p.Gln1349Ter
XM_006714489.2:c.7405-3C>T XP_006714552.1:n.7405-3C>T
XM_006714491.2:c.1975C>T XP_006714554.1:p.Gln659Ter
XM_006714491.3:c.1975C>T XP_006714554.1:p.Gln659Ter
XM_011514085.1:c.7402C>T XP_011512387.1:p.Gln2468Ter
XM_011514085.3:c.7402C>T XP_011512387.1:p.Gln2468Ter
XM_011514086.1:c.7402C>T XP_011512388.1:p.Gln2468Ter
XM_011514086.3:c.7402C>T XP_011512388.1:p.Gln2468Ter
XM_011514087.1:c.7402C>T XP_011512389.1:p.Gln2468Ter
XM_011514087.2:c.7402C>T XP_011512389.1:p.Gln2468Ter
XM_011514088.1:c.7402C>T XP_011512390.1:p.Gln2468Ter
XM_011514088.2:c.7402C>T XP_011512390.1:p.Gln2468Ter
XM_011514089.1:c.7402C>T XP_011512391.1:p.Gln2468Ter
XM_011514089.2:c.7402C>T XP_011512391.1:p.Gln2468Ter
XM_011514090.1:c.7084C>T XP_011512392.1:p.Gln2362Ter
XM_011514090.3:c.7084C>T XP_011512392.1:p.Gln2362Ter
XM_011514091.1:c.6730C>T XP_011512393.1:p.Gln2244Ter
XM_011514092.1:c.7402C>T XP_011512394.1:p.Gln2468Ter
XM_011514092.2:c.7402C>T XP_011512394.1:p.Gln2468Ter
XM_011514093.1:c.7402C>T XP_011512395.1:p.Gln2468Ter
XM_011514094.1:c.4627C>T XP_011512396.1:p.Gln1543Ter
XM_011514094.2:c.4627C>T XP_011512396.1:p.Gln1543Ter
XM_017009760.1:c.7213C>T XP_016865249.1:p.Gln2405Ter
XM_017009761.2:c.7213C>T XP_016865250.1:p.Gln2405Ter
XM_017009763.1:c.6409C>T XP_016865252.1:p.Gln2137Ter
XM_017009765.1:c.6214C>T XP_016865254.1:p.Gln2072Ter
XM_017009766.1:c.4045C>T XP_016865255.1:p.Gln1349Ter
XM_024446183.1:c.7213C>T XP_024301951.1:p.Gln2405Ter
XM_024446184.1:c.7084C>T XP_024301952.1:p.Gln2362Ter
XM_024446185.1:c.6730C>T XP_024301953.1:p.Gln2244Ter
XM_024446186.1:c.6409C>T XP_024301954.1:p.Gln2137Ter
XR_001742208.1:n.7626C>T
XR_002956171.1:n.7626C>T
XR_427661.2:n.7577C>T
XR_925644.1:n.7577C>T
XR_925644.2:n.7626C>T