Canonical Allele Identifier: CA349407128

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530557T>G , CM000664.2:g.178530557T>G GRCh38
NC_000002.11:g.179395284T>G , CM000664.1:g.179395284T>G GRCh37
NC_000002.10:g.179103530T>G NCBI36
NG_011618.3:g.305246A>C , LRG_391:g.305246A>C
NG_051363.1:g.12731T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98354A>C (TTN) ENSP00000343764.6:p.Asp32785Ala
ENST00000342175.11:c.79439A>C (TTN) ENSP00000340554.6:p.Asp26480Ala
ENST00000359218.10:c.79238A>C (TTN) ENSP00000352154.5:p.Asp26413Ala
ENST00000342175.10:c.79439A>C (TTN) ENSP00000340554.6:p.Asp26480Ala
ENST00000342992.10:c.98354A>C (TTN) ENSP00000343764.6:p.Asp32785Ala
ENST00000359218.9:c.79238A>C (TTN) ENSP00000352154.5:p.Asp26413Ala
ENST00000460472.6:c.78863A>C (TTN) ENSP00000434586.1:p.Asp26288Ala
ENST00000589042.5:c.106058A>C (TTN) MANE Select ENSP00000467141.1:p.Asp35353Ala
ENST00000591111.5:c.101135A>C (TTN) ENSP00000465570.1:p.Asp33712Ala
ENST00000615779.4:c.101135A>C (TTN) ENSP00000483597.1:p.Asp33712Ala
NM_001256850.1:c.101135A>C (TTN) NP_001243779.1:p.Asp33712Ala
NM_001267550.2:c.106058A>C (TTN) MANE Select NP_001254479.2:p.Asp35353Ala
NM_003319.4:c.78863A>C (TTN) NP_003310.4:p.Asp26288Ala
NM_133378.4:c.98354A>C (TTN) NP_596869.4:p.Asp32785Ala
NM_133432.3:c.79238A>C (TTN) NP_597676.3:p.Asp26413Ala
NM_133437.4:c.79439A>C (TTN) NP_597681.4:p.Asp26480Ala
NR_038271.1:n.446+6921T>G (TTN-AS1)
NR_038272.1:n.220-5175T>G (TTN-AS1)
XM_011511729.1:c.105155A>C (TTN) XP_011510031.1:p.Asp35052Ala
XM_011511730.1:c.79049A>C (TTN) XP_011510032.1:p.Asp26350Ala
XM_011511731.1:c.78908A>C (TTN) XP_011510033.1:p.Asp26303Ala
XM_017004819.1:c.104951A>C (TTN) XP_016860308.1:p.Asp34984Ala
XM_017004820.1:c.100349A>C (TTN) XP_016860309.1:p.Asp33450Ala
XM_017004821.1:c.100346A>C (TTN) XP_016860310.1:p.Asp33449Ala
XM_017004822.1:c.97388A>C (TTN) XP_016860311.1:p.Asp32463Ala
XM_017004823.1:c.79004A>C (TTN) XP_016860312.1:p.Asp26335Ala
XM_024453094.1:c.100499A>C (TTN) XP_024308862.1:p.Asp33500Ala
XM_024453095.1:c.100496A>C (TTN) XP_024308863.1:p.Asp33499Ala
XM_024453096.1:c.99929A>C (TTN) XP_024308864.1:p.Asp33310Ala
XM_024453097.1:c.97271A>C (TTN) XP_024308865.1:p.Asp32424Ala
XM_024453098.1:c.97190A>C (TTN) XP_024308866.1:p.Asp32397Ala
XM_024453099.1:c.78953A>C (TTN) XP_024308867.1:p.Asp26318Ala
XM_024453100.1:c.68807A>C (TTN) XP_024308868.1:p.Asp22936Ala