Canonical Allele Identifier: CA1985634
Community Standard Title: NM_001267550.2(TTN):c.103267A>G (p.Ile34423Val)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178533348T>C , CM000664.2:g.178533348T>C GRCh38
NC_000002.11:g.179398075T>C , CM000664.1:g.179398075T>C GRCh37
NC_000002.10:g.179106321T>C NCBI36
NG_011618.3:g.302455A>G , LRG_391:g.302455A>G
NG_051363.1:g.15522T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.103267A>G (TTN) MANE Select NP_001254479.2:p.Ile34423Val
ENST00000589042.5:c.103267A>G (TTN) MANE Select ENSP00000467141.1:p.Ile34423Val
NM_001256850.1:c.98344A>G (TTN) NP_001243779.1:p.Ile32782Val
NM_003319.4:c.76072A>G (TTN) NP_003310.4:p.Ile25358Val
NM_133378.4:c.95563A>G (TTN) NP_596869.4:p.Ile31855Val
NM_133432.3:c.76447A>G (TTN) NP_597676.3:p.Ile25483Val
NM_133437.4:c.76648A>G (TTN) NP_597681.4:p.Ile25550Val
NR_038271.1:n.446+9712T>C (TTN-AS1)
NR_038272.1:n.220-2384T>C (TTN-AS1)
ENST00000342175.10:c.76648A>G (TTN) ENSP00000340554.6:p.Ile25550Val
ENST00000342175.11:c.76648A>G (TTN) ENSP00000340554.6:p.Ile25550Val
ENST00000342992.10:c.95563A>G (TTN) ENSP00000343764.6:p.Ile31855Val
ENST00000342992.11:c.95563A>G (TTN) ENSP00000343764.6:p.Ile31855Val
ENST00000359218.10:c.76447A>G (TTN) ENSP00000352154.5:p.Ile25483Val
ENST00000359218.9:c.76447A>G (TTN) ENSP00000352154.5:p.Ile25483Val
ENST00000460472.6:c.76072A>G (TTN) ENSP00000434586.1:p.Ile25358Val
ENST00000591111.5:c.98344A>G (TTN) ENSP00000465570.1:p.Ile32782Val
ENST00000615779.4:c.98344A>G (TTN) ENSP00000483597.1:p.Ile32782Val
XM_011511729.1:c.102364A>G (TTN) XP_011510031.1:p.Ile34122Val
XM_011511730.1:c.76258A>G (TTN) XP_011510032.1:p.Ile25420Val
XM_011511731.1:c.76117A>G (TTN) XP_011510033.1:p.Ile25373Val
XM_017004819.1:c.102160A>G (TTN) XP_016860308.1:p.Ile34054Val
XM_017004820.1:c.97558A>G (TTN) XP_016860309.1:p.Ile32520Val
XM_017004821.1:c.97555A>G (TTN) XP_016860310.1:p.Ile32519Val
XM_017004822.1:c.94597A>G (TTN) XP_016860311.1:p.Ile31533Val
XM_017004823.1:c.76213A>G (TTN) XP_016860312.1:p.Ile25405Val
XM_024453094.1:c.97708A>G (TTN) XP_024308862.1:p.Ile32570Val
XM_024453095.1:c.97705A>G (TTN) XP_024308863.1:p.Ile32569Val
XM_024453096.1:c.97138A>G (TTN) XP_024308864.1:p.Ile32380Val
XM_024453097.1:c.94480A>G (TTN) XP_024308865.1:p.Ile31494Val
XM_024453098.1:c.94399A>G (TTN) XP_024308866.1:p.Ile31467Val
XM_024453099.1:c.76162A>G (TTN) XP_024308867.1:p.Ile25388Val
XM_024453100.1:c.66016A>G (TTN) XP_024308868.1:p.Ile22006Val