Canonical Allele Identifier: CA390257176
Community Standard Title: NM_020806.5(GPHN):c.1156C>T (p.Arg386Ter)
Gene: GPHN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67088994C>T , CM000676.2:g.67088994C>T GRCh38
NC_000014.8:g.67555711C>T , CM000676.1:g.67555711C>T GRCh37
NC_000014.7:g.66625464C>T NCBI36
NG_008875.1:g.586587C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020806.5:c.1156C>T MANE Select NP_065857.1:p.Arg386Ter
ENST00000478722.6:c.1156C>T MANE Select ENSP00000417901.1:p.Arg386Ter
NM_001024218.1:c.1057C>T NP_001019389.1:p.Arg353Ter
NM_001024218.2:c.1057C>T NP_001019389.1:p.Arg353Ter
NM_001377514.1:c.1216C>T NP_001364443.1:p.Arg406Ter
NM_001377515.1:c.1186C>T NP_001364444.1:p.Arg396Ter
NM_001377516.1:c.1177C>T NP_001364445.1:p.Arg393Ter
NM_001377517.1:c.1129C>T NP_001364446.1:p.Arg377Ter
NM_001377518.1:c.1114C>T NP_001364447.1:p.Arg372Ter
NM_001377519.1:c.1096C>T NP_001364448.1:p.Arg366Ter
NM_020806.4:c.1156C>T NP_065857.1:p.Arg386Ter
ENST00000315266.9:c.1057C>T ENSP00000312771.5:p.Arg353Ter
ENST00000478722.5:c.1156C>T ENSP00000417901.1:p.Arg386Ter
ENST00000543237.5:c.1195C>T ENSP00000438404.1:p.Arg399Ter
ENST00000544752.6:n.1204C>T
ENST00000556501.1:n.150C>T
XM_005267254.2:c.1114C>T XP_005267311.1:p.Arg372Ter
XM_005267254.4:c.1114C>T XP_005267311.1:p.Arg372Ter
XM_011536340.1:c.1324C>T XP_011534642.1:p.Arg442Ter
XM_011536340.3:c.1324C>T XP_011534642.1:p.Arg442Ter
XM_011536342.1:c.1285C>T XP_011534644.1:p.Arg429Ter
XM_011536342.3:c.1285C>T XP_011534644.1:p.Arg429Ter
XM_011536343.1:c.1252C>T XP_011534645.1:p.Arg418Ter
XM_011536343.3:c.1252C>T XP_011534645.1:p.Arg418Ter
XM_011536344.1:c.1225C>T XP_011534646.1:p.Arg409Ter
XM_011536344.3:c.1225C>T XP_011534646.1:p.Arg409Ter
XM_011536345.1:c.1195C>T XP_011534647.1:p.Arg399Ter
XM_011536345.3:c.1195C>T XP_011534647.1:p.Arg399Ter
XM_011536346.1:c.1186C>T XP_011534648.1:p.Arg396Ter
XM_011536346.3:c.1186C>T XP_011534648.1:p.Arg396Ter
XM_011536347.1:c.1096C>T XP_011534649.1:p.Arg366Ter
XM_011536347.2:c.1096C>T XP_011534649.1:p.Arg366Ter
XM_011536348.1:c.307C>T XP_011534650.1:p.Arg103Ter
XM_017020913.2:c.1315C>T XP_016876402.1:p.Arg439Ter
XM_017020914.2:c.1267C>T XP_016876403.1:p.Arg423Ter
XM_017020915.2:c.1216C>T XP_016876404.1:p.Arg406Ter
XM_017020916.2:c.1177C>T XP_016876405.1:p.Arg393Ter
XM_017020917.2:c.1168C>T XP_016876406.1:p.Arg390Ter
XM_017020918.2:c.1153C>T XP_016876407.1:p.Arg385Ter
XM_017020919.2:c.1129C>T XP_016876408.1:p.Arg377Ter
XM_017020920.2:c.1015C>T XP_016876409.1:p.Arg339Ter
XM_017020921.1:c.955C>T XP_016876410.1:p.Arg319Ter
XM_017020922.1:c.955C>T XP_016876411.1:p.Arg319Ter
XM_017020923.1:c.826C>T XP_016876412.1:p.Arg276Ter
XM_017020924.1:c.307C>T XP_016876413.1:p.Arg103Ter
XM_017020925.2:c.1312+30208C>T XP_016876414.1:n.1312+30208C>T
XM_017020926.1:c.235C>T XP_016876415.1:p.Arg79Ter
XR_943947.1:n.402+11264G>A
XR_943948.1:n.1072+11264G>A