Canonical Allele Identifier: CA8355383
Community Standard Title: NM_001143992.2(WRAP53):c.1521C>T (p.His507=)
Gene: WRAP53 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7703360C>T , CM000679.2:g.7703360C>T GRCh38
NC_000017.10:g.7606678C>T , CM000679.1:g.7606678C>T GRCh37
NC_000017.9:g.7547403C>T NCBI36
NG_028245.1:g.22290C>T , LRG_375:g.22290C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001143992.2:c.1521C>T MANE Select NP_001137464.1:p.His507=
ENST00000396463.7:c.1521C>T MANE Select ENSP00000379727.3:p.His507=
NM_001143990.1:c.1521C>T NP_001137462.1:p.His507=
NM_001143990.2:c.1521C>T NP_001137462.1:p.His507=
NM_001143991.1:c.1521C>T NP_001137463.1:p.His507=
NM_001143991.2:c.1521C>T NP_001137463.1:p.His507=
NM_001143992.1:c.1521C>T NP_001137464.1:p.His507=
NM_018081.2:c.1521C>T , LRG_375t1:c.1521C>T NP_060551.2:p.His507=
ENST00000316024.9:c.1521C>T ENSP00000324203.5:p.His507=
ENST00000396463.6:c.1521C>T ENSP00000379727.2:p.His507=
ENST00000431639.6:c.1521C>T ENSP00000397219.2:p.His507=
ENST00000457584.6:c.1521C>T ENSP00000411061.2:p.His507=
ENST00000463804.6:c.490C>T ENSP00000465025.1:n.490C>T
ENST00000467699.5:n.2383C>T
ENST00000471973.6:n.856C>T
ENST00000498114.1:n.365C>T
ENST00000498311.5:c.*689C>T ENSP00000432991.1:n.*689C>T
ENST00000534050.5:c.1422C>T ENSP00000434999.1:p.His474=
ENST00000698743.1:c.*1254C>T ENSP00000513905.1:n.*1254C>T
ENST00000698744.1:c.*1181C>T ENSP00000513906.1:n.*1181C>T
ENST00000698745.1:c.*965C>T ENSP00000513907.1:n.*965C>T
ENST00000698746.1:c.1386C>T ENSP00000513908.1:p.His462=
ENST00000698747.1:c.1113C>T ENSP00000513909.1:p.His371=
XM_011523952.1:c.882C>T XP_011522254.1:p.His294=
XM_011523952.2:c.882C>T XP_011522254.1:p.His294=
XM_024450824.1:c.729C>T XP_024306592.1:p.His243=
XR_001752551.2:n.1798C>T