Canonical Allele Identifier: CA349660636
Community Standard Title: NM_001267550.2(TTN):c.41324T>C (p.Val13775Ala)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178636403A>G , CM000664.2:g.178636403A>G GRCh38
NC_000002.11:g.179501130A>G , CM000664.1:g.179501130A>G GRCh37
NC_000002.10:g.179209375A>G NCBI36
NG_011618.3:g.199400T>C , LRG_391:g.199400T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.41324T>C MANE Select NP_001254479.2:p.Val13775Ala
ENST00000589042.5:c.41324T>C MANE Select ENSP00000467141.1:p.Val13775Ala
NM_001256850.1:c.36401T>C NP_001243779.1:p.Val12134Ala
NM_003319.4:c.14129T>C NP_003310.4:p.Val4710Ala
NM_133378.4:c.33620T>C NP_596869.4:p.Val11207Ala
NM_133432.3:c.14504T>C NP_597676.3:p.Val4835Ala
NM_133437.4:c.14705T>C NP_597681.4:p.Val4902Ala
ENST00000342175.10:c.14705T>C ENSP00000340554.6:p.Val4902Ala
ENST00000342175.11:c.14705T>C ENSP00000340554.6:p.Val4902Ala
ENST00000342992.10:c.33620T>C ENSP00000343764.6:p.Val11207Ala
ENST00000342992.11:c.33620T>C ENSP00000343764.6:p.Val11207Ala
ENST00000359218.10:c.14504T>C ENSP00000352154.5:p.Val4835Ala
ENST00000359218.9:c.14504T>C ENSP00000352154.5:p.Val4835Ala
ENST00000460472.6:c.14129T>C ENSP00000434586.1:p.Val4710Ala
ENST00000591111.5:c.36401T>C ENSP00000465570.1:p.Val12134Ala
ENST00000615779.4:c.36401T>C ENSP00000483597.1:p.Val12134Ala
XM_011511729.1:c.40421T>C XP_011510031.1:p.Val13474Ala
XM_011511730.1:c.14315T>C XP_011510032.1:p.Val4772Ala
XM_011511731.1:c.14174T>C XP_011510033.1:p.Val4725Ala
XM_017004819.1:c.40217T>C XP_016860308.1:p.Val13406Ala
XM_017004820.1:c.35615T>C XP_016860309.1:p.Val11872Ala
XM_017004821.1:c.35612T>C XP_016860310.1:p.Val11871Ala
XM_017004822.1:c.32654T>C XP_016860311.1:p.Val10885Ala
XM_017004823.1:c.14270T>C XP_016860312.1:p.Val4757Ala
XM_024453094.1:c.35765T>C XP_024308862.1:p.Val11922Ala
XM_024453095.1:c.35762T>C XP_024308863.1:p.Val11921Ala
XM_024453096.1:c.35195T>C XP_024308864.1:p.Val11732Ala
XM_024453097.1:c.32537T>C XP_024308865.1:p.Val10846Ala
XM_024453098.1:c.32456T>C XP_024308866.1:p.Val10819Ala
XM_024453099.1:c.14219T>C XP_024308867.1:p.Val4740Ala
XM_024453100.1:c.4073T>C XP_024308868.1:p.Val1358Ala