Canonical Allele Identifier: CA349454817

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544208T>A , CM000664.2:g.178544208T>A GRCh38
NC_000002.11:g.179408935T>A , CM000664.1:g.179408935T>A GRCh37
NC_000002.10:g.179117181T>A NCBI36
NG_011618.3:g.291595A>T , LRG_391:g.291595A>T
NG_051363.1:g.26382T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88317A>T (TTN) ENSP00000343764.6:p.Glu29439Asp
ENST00000342175.11:c.69402A>T (TTN) ENSP00000340554.6:p.Glu23134Asp
ENST00000359218.10:c.69201A>T (TTN) ENSP00000352154.5:p.Glu23067Asp
ENST00000342175.10:c.69402A>T (TTN) ENSP00000340554.6:p.Glu23134Asp
ENST00000342992.10:c.88317A>T (TTN) ENSP00000343764.6:p.Glu29439Asp
ENST00000359218.9:c.69201A>T (TTN) ENSP00000352154.5:p.Glu23067Asp
ENST00000460472.6:c.68826A>T (TTN) ENSP00000434586.1:p.Glu22942Asp
ENST00000589042.5:c.96021A>T (TTN) MANE Select ENSP00000467141.1:p.Glu32007Asp
ENST00000591111.5:c.91098A>T (TTN) ENSP00000465570.1:p.Glu30366Asp
ENST00000615779.4:c.91098A>T (TTN) ENSP00000483597.1:p.Glu30366Asp
NM_001256850.1:c.91098A>T (TTN) NP_001243779.1:p.Glu30366Asp
NM_001267550.2:c.96021A>T (TTN) MANE Select NP_001254479.2:p.Glu32007Asp
NM_003319.4:c.68826A>T (TTN) NP_003310.4:p.Glu22942Asp
NM_133378.4:c.88317A>T (TTN) NP_596869.4:p.Glu29439Asp
NM_133432.3:c.69201A>T (TTN) NP_597676.3:p.Glu23067Asp
NM_133437.4:c.69402A>T (TTN) NP_597681.4:p.Glu23134Asp
NR_038271.1:n.446+20572T>A (TTN-AS1)
NR_038272.1:n.2043+1847T>A (TTN-AS1)
XM_011511729.1:c.95118A>T (TTN) XP_011510031.1:p.Glu31706Asp
XM_011511730.1:c.69012A>T (TTN) XP_011510032.1:p.Glu23004Asp
XM_011511731.1:c.68871A>T (TTN) XP_011510033.1:p.Glu22957Asp
XM_017004819.1:c.94914A>T (TTN) XP_016860308.1:p.Glu31638Asp
XM_017004820.1:c.90312A>T (TTN) XP_016860309.1:p.Glu30104Asp
XM_017004821.1:c.90309A>T (TTN) XP_016860310.1:p.Glu30103Asp
XM_017004822.1:c.87351A>T (TTN) XP_016860311.1:p.Glu29117Asp
XM_017004823.1:c.68967A>T (TTN) XP_016860312.1:p.Glu22989Asp
XM_024453094.1:c.90462A>T (TTN) XP_024308862.1:p.Glu30154Asp
XM_024453095.1:c.90459A>T (TTN) XP_024308863.1:p.Glu30153Asp
XM_024453096.1:c.89892A>T (TTN) XP_024308864.1:p.Glu29964Asp
XM_024453097.1:c.87234A>T (TTN) XP_024308865.1:p.Glu29078Asp
XM_024453098.1:c.87153A>T (TTN) XP_024308866.1:p.Glu29051Asp
XM_024453099.1:c.68916A>T (TTN) XP_024308867.1:p.Glu22972Asp
XM_024453100.1:c.58770A>T (TTN) XP_024308868.1:p.Glu19590Asp