Canonical Allele Identifier: CA349455060

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544225C>A , CM000664.2:g.178544225C>A GRCh38
NC_000002.11:g.179408952C>A , CM000664.1:g.179408952C>A GRCh37
NC_000002.10:g.179117198C>A NCBI36
NG_011618.3:g.291578G>T , LRG_391:g.291578G>T
NG_051363.1:g.26399C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88300G>T (TTN) ENSP00000343764.6:p.Glu29434Ter
ENST00000342175.11:c.69385G>T (TTN) ENSP00000340554.6:p.Glu23129Ter
ENST00000359218.10:c.69184G>T (TTN) ENSP00000352154.5:p.Glu23062Ter
ENST00000342175.10:c.69385G>T (TTN) ENSP00000340554.6:p.Glu23129Ter
ENST00000342992.10:c.88300G>T (TTN) ENSP00000343764.6:p.Glu29434Ter
ENST00000359218.9:c.69184G>T (TTN) ENSP00000352154.5:p.Glu23062Ter
ENST00000460472.6:c.68809G>T (TTN) ENSP00000434586.1:p.Glu22937Ter
ENST00000589042.5:c.96004G>T (TTN) MANE Select ENSP00000467141.1:p.Glu32002Ter
ENST00000591111.5:c.91081G>T (TTN) ENSP00000465570.1:p.Glu30361Ter
ENST00000615779.4:c.91081G>T (TTN) ENSP00000483597.1:p.Glu30361Ter
NM_001256850.1:c.91081G>T (TTN) NP_001243779.1:p.Glu30361Ter
NM_001267550.2:c.96004G>T (TTN) MANE Select NP_001254479.2:p.Glu32002Ter
NM_003319.4:c.68809G>T (TTN) NP_003310.4:p.Glu22937Ter
NM_133378.4:c.88300G>T (TTN) NP_596869.4:p.Glu29434Ter
NM_133432.3:c.69184G>T (TTN) NP_597676.3:p.Glu23062Ter
NM_133437.4:c.69385G>T (TTN) NP_597681.4:p.Glu23129Ter
NR_038271.1:n.446+20589C>A (TTN-AS1)
NR_038272.1:n.2043+1864C>A (TTN-AS1)
XM_011511729.1:c.95101G>T (TTN) XP_011510031.1:p.Glu31701Ter
XM_011511730.1:c.68995G>T (TTN) XP_011510032.1:p.Glu22999Ter
XM_011511731.1:c.68854G>T (TTN) XP_011510033.1:p.Glu22952Ter
XM_017004819.1:c.94897G>T (TTN) XP_016860308.1:p.Glu31633Ter
XM_017004820.1:c.90295G>T (TTN) XP_016860309.1:p.Glu30099Ter
XM_017004821.1:c.90292G>T (TTN) XP_016860310.1:p.Glu30098Ter
XM_017004822.1:c.87334G>T (TTN) XP_016860311.1:p.Glu29112Ter
XM_017004823.1:c.68950G>T (TTN) XP_016860312.1:p.Glu22984Ter
XM_024453094.1:c.90445G>T (TTN) XP_024308862.1:p.Glu30149Ter
XM_024453095.1:c.90442G>T (TTN) XP_024308863.1:p.Glu30148Ter
XM_024453096.1:c.89875G>T (TTN) XP_024308864.1:p.Glu29959Ter
XM_024453097.1:c.87217G>T (TTN) XP_024308865.1:p.Glu29073Ter
XM_024453098.1:c.87136G>T (TTN) XP_024308866.1:p.Glu29046Ter
XM_024453099.1:c.68899G>T (TTN) XP_024308867.1:p.Glu22967Ter
XM_024453100.1:c.58753G>T (TTN) XP_024308868.1:p.Glu19585Ter