Canonical Allele Identifier: CA349502885

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551681G>T , CM000664.2:g.178551681G>T GRCh38
NC_000002.11:g.179416408G>T , CM000664.1:g.179416408G>T GRCh37
NC_000002.10:g.179124654G>T NCBI36
NG_011618.3:g.284122C>A , LRG_391:g.284122C>A
NG_051363.1:g.33855G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.83515C>A (TTN) ENSP00000343764.6:p.Leu27839Ile
ENST00000342175.11:c.64600C>A (TTN) ENSP00000340554.6:p.Leu21534Ile
ENST00000359218.10:c.64399C>A (TTN) ENSP00000352154.5:p.Leu21467Ile
ENST00000342175.10:c.64600C>A (TTN) ENSP00000340554.6:p.Leu21534Ile
ENST00000342992.10:c.83515C>A (TTN) ENSP00000343764.6:p.Leu27839Ile
ENST00000359218.9:c.64399C>A (TTN) ENSP00000352154.5:p.Leu21467Ile
ENST00000460472.6:c.64024C>A (TTN) ENSP00000434586.1:p.Leu21342Ile
ENST00000589042.5:c.91219C>A (TTN) MANE Select ENSP00000467141.1:p.Leu30407Ile
ENST00000591111.5:c.86296C>A (TTN) ENSP00000465570.1:p.Leu28766Ile
ENST00000615779.4:c.86296C>A (TTN) ENSP00000483597.1:p.Leu28766Ile
NM_001256850.1:c.86296C>A (TTN) NP_001243779.1:p.Leu28766Ile
NM_001267550.2:c.91219C>A (TTN) MANE Select NP_001254479.2:p.Leu30407Ile
NM_003319.4:c.64024C>A (TTN) NP_003310.4:p.Leu21342Ile
NM_133378.4:c.83515C>A (TTN) NP_596869.4:p.Leu27839Ile
NM_133432.3:c.64399C>A (TTN) NP_597676.3:p.Leu21467Ile
NM_133437.4:c.64600C>A (TTN) NP_597681.4:p.Leu21534Ile
NR_038271.1:n.447-19619G>T (TTN-AS1)
NR_038272.1:n.2043+9320G>T (TTN-AS1)
XM_011511729.1:c.90316C>A (TTN) XP_011510031.1:p.Leu30106Ile
XM_011511730.1:c.64210C>A (TTN) XP_011510032.1:p.Leu21404Ile
XM_011511731.1:c.64069C>A (TTN) XP_011510033.1:p.Leu21357Ile
XM_017004819.1:c.90112C>A (TTN) XP_016860308.1:p.Leu30038Ile
XM_017004820.1:c.85510C>A (TTN) XP_016860309.1:p.Leu28504Ile
XM_017004821.1:c.85507C>A (TTN) XP_016860310.1:p.Leu28503Ile
XM_017004822.1:c.82549C>A (TTN) XP_016860311.1:p.Leu27517Ile
XM_017004823.1:c.64165C>A (TTN) XP_016860312.1:p.Leu21389Ile
XM_024453094.1:c.85660C>A (TTN) XP_024308862.1:p.Leu28554Ile
XM_024453095.1:c.85657C>A (TTN) XP_024308863.1:p.Leu28553Ile
XM_024453096.1:c.85090C>A (TTN) XP_024308864.1:p.Leu28364Ile
XM_024453097.1:c.82432C>A (TTN) XP_024308865.1:p.Leu27478Ile
XM_024453098.1:c.82351C>A (TTN) XP_024308866.1:p.Leu27451Ile
XM_024453099.1:c.64114C>A (TTN) XP_024308867.1:p.Leu21372Ile
XM_024453100.1:c.53968C>A (TTN) XP_024308868.1:p.Leu17990Ile