Canonical Allele Identifier: CA349400132

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527580G>T , CM000664.2:g.178527580G>T GRCh38
NC_000002.11:g.179392307G>T , CM000664.1:g.179392307G>T GRCh37
NC_000002.10:g.179100553G>T NCBI36
NG_011618.3:g.308223C>A , LRG_391:g.308223C>A
NG_051363.1:g.9754G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.99842C>A (TTN) ENSP00000343764.6:p.Ala33281Glu
ENST00000342175.11:c.80927C>A (TTN) ENSP00000340554.6:p.Ala26976Glu
ENST00000359218.10:c.80726C>A (TTN) ENSP00000352154.5:p.Ala26909Glu
ENST00000342175.10:c.80927C>A (TTN) ENSP00000340554.6:p.Ala26976Glu
ENST00000342992.10:c.99842C>A (TTN) ENSP00000343764.6:p.Ala33281Glu
ENST00000359218.9:c.80726C>A (TTN) ENSP00000352154.5:p.Ala26909Glu
ENST00000460472.6:c.80351C>A (TTN) ENSP00000434586.1:p.Ala26784Glu
ENST00000589042.5:c.107546C>A (TTN) MANE Select ENSP00000467141.1:p.Ala35849Glu
ENST00000591111.5:c.102623C>A (TTN) ENSP00000465570.1:p.Ala34208Glu
ENST00000615779.4:c.102623C>A (TTN) ENSP00000483597.1:p.Ala34208Glu
NM_001256850.1:c.102623C>A (TTN) NP_001243779.1:p.Ala34208Glu
NM_001267550.2:c.107546C>A (TTN) MANE Select NP_001254479.2:p.Ala35849Glu
NM_003319.4:c.80351C>A (TTN) NP_003310.4:p.Ala26784Glu
NM_133378.4:c.99842C>A (TTN) NP_596869.4:p.Ala33281Glu
NM_133432.3:c.80726C>A (TTN) NP_597676.3:p.Ala26909Glu
NM_133437.4:c.80927C>A (TTN) NP_597681.4:p.Ala26976Glu
NR_038271.1:n.446+3944G>T (TTN-AS1)
NR_038272.1:n.219+3944G>T (TTN-AS1)
XM_011511729.1:c.106643C>A (TTN) XP_011510031.1:p.Ala35548Glu
XM_011511730.1:c.80537C>A (TTN) XP_011510032.1:p.Ala26846Glu
XM_011511731.1:c.80396C>A (TTN) XP_011510033.1:p.Ala26799Glu
XM_017004819.1:c.106439C>A (TTN) XP_016860308.1:p.Ala35480Glu
XM_017004820.1:c.101837C>A (TTN) XP_016860309.1:p.Ala33946Glu
XM_017004821.1:c.101834C>A (TTN) XP_016860310.1:p.Ala33945Glu
XM_017004822.1:c.98876C>A (TTN) XP_016860311.1:p.Ala32959Glu
XM_017004823.1:c.80492C>A (TTN) XP_016860312.1:p.Ala26831Glu
XM_024453094.1:c.101987C>A (TTN) XP_024308862.1:p.Ala33996Glu
XM_024453095.1:c.101984C>A (TTN) XP_024308863.1:p.Ala33995Glu
XM_024453096.1:c.101417C>A (TTN) XP_024308864.1:p.Ala33806Glu
XM_024453097.1:c.98759C>A (TTN) XP_024308865.1:p.Ala32920Glu
XM_024453098.1:c.98678C>A (TTN) XP_024308866.1:p.Ala32893Glu
XM_024453099.1:c.80441C>A (TTN) XP_024308867.1:p.Ala26814Glu
XM_024453100.1:c.70295C>A (TTN) XP_024308868.1:p.Ala23432Glu