Canonical Allele Identifier: CA5175267
Community Standard Title: NM_003640.5(ELP1):c.676C>T (p.Arg226Ter)
Gene: ELP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.108918875G>A , CM000671.2:g.108918875G>A GRCh38
NC_000009.11:g.111681155G>A , CM000671.1:g.111681155G>A GRCh37
NC_000009.10:g.110720976G>A NCBI36
NG_008788.1:g.20454C>T , LRG_251:g.20454C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003640.5:c.676C>T MANE Select NP_003631.2:p.Arg226Ter
ENST00000374647.10:c.676C>T MANE Select ENSP00000363779.5:p.Arg226Ter
NM_001318360.1:c.334C>T NP_001305289.1:p.Arg112Ter
NM_001318360.2:c.334C>T NP_001305289.1:p.Arg112Ter
NM_001330749.1:c.-307-1205C>T NP_001317678.1:n.-307-1205C>T
NM_001330749.2:c.-307-1205C>T NP_001317678.1:n.-307-1205C>T
NM_003640.3:c.676C>T , LRG_251t1:c.676C>T NP_003631.2:p.Arg226Ter
NM_003640.4:c.676C>T NP_003631.2:p.Arg226Ter
ENST00000374647.9:c.676C>T ENSP00000363779.5:p.Arg226Ter
ENST00000495759.6:c.552+3967C>T ENSP00000433514.2:n.552+3967C>T
ENST00000537196.1:c.-307-1205C>T ENSP00000439367.1:n.-307-1205C>T
ENST00000674535.1:c.676C>T ENSP00000502142.1:p.Arg226Ter
ENST00000674704.1:n.1343C>T
ENST00000674836.1:n.981C>T
ENST00000674890.1:c.676C>T ENSP00000501870.1:p.Arg226Ter
ENST00000674938.1:c.334C>T ENSP00000502427.1:p.Arg112Ter
ENST00000674948.1:c.334C>T ENSP00000501602.1:p.Arg112Ter
ENST00000675052.1:c.676C>T ENSP00000502664.1:p.Arg226Ter
ENST00000675078.1:c.676C>T ENSP00000501549.1:p.Arg226Ter
ENST00000675215.1:c.553-1205C>T ENSP00000502558.1:n.553-1205C>T
ENST00000675233.1:n.1332C>T
ENST00000675321.1:c.676C>T ENSP00000502751.1:p.Arg226Ter
ENST00000675325.1:n.1332C>T
ENST00000675335.1:c.676C>T ENSP00000502182.1:p.Arg226Ter
ENST00000675400.1:n.1209C>T
ENST00000675406.1:c.676C>T ENSP00000501893.1:p.Arg226Ter
ENST00000675458.1:c.769C>T ENSP00000501754.1:n.769C>T
ENST00000675507.1:n.1332C>T
ENST00000675535.1:c.676C>T ENSP00000501667.1:p.Arg226Ter
ENST00000675566.1:n.1332C>T
ENST00000675602.1:n.1335C>T
ENST00000675647.1:n.981C>T
ENST00000675711.1:c.676C>T ENSP00000502485.1:p.Arg226Ter
ENST00000675727.1:c.676C>T ENSP00000501722.1:p.Arg226Ter
ENST00000675748.1:n.1170C>T
ENST00000675765.1:c.676C>T ENSP00000502640.1:p.Arg226Ter
ENST00000675825.1:c.676C>T ENSP00000502632.1:p.Arg226Ter
ENST00000675877.1:n.981C>T
ENST00000675893.1:c.*605C>T ENSP00000502001.1:n.*605C>T
ENST00000675943.1:n.1332C>T
ENST00000675979.1:c.649+378C>T ENSP00000502208.1:n.649+378C>T
ENST00000676044.1:c.676C>T ENSP00000502378.1:p.Arg226Ter
ENST00000676086.1:n.1332C>T
ENST00000676121.1:n.1364C>T
ENST00000676237.1:c.649+378C>T ENSP00000501828.1:n.649+378C>T
ENST00000676416.1:c.334C>T ENSP00000501660.1:p.Arg112Ter
ENST00000676424.1:n.1332C>T
ENST00000676429.1:n.4005C>T
XM_005252285.2:c.334C>T XP_005252342.1:p.Arg112Ter
XM_011519136.1:c.676C>T XP_011517438.1:p.Arg226Ter
XM_011519136.2:c.676C>T XP_011517438.1:p.Arg226Ter
XM_011519137.1:c.334C>T XP_011517439.1:p.Arg112Ter
XR_929859.1:n.992C>T
XR_929859.3:n.1003C>T