Canonical Allele Identifier: CA349660641
Community Standard Title: NM_001267550.2(TTN):c.41323G>T (p.Val13775Leu)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178636404C>A , CM000664.2:g.178636404C>A GRCh38
NC_000002.11:g.179501131C>A , CM000664.1:g.179501131C>A GRCh37
NC_000002.10:g.179209376C>A NCBI36
NG_011618.3:g.199399G>T , LRG_391:g.199399G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.41323G>T MANE Select NP_001254479.2:p.Val13775Leu
ENST00000589042.5:c.41323G>T MANE Select ENSP00000467141.1:p.Val13775Leu
NM_001256850.1:c.36400G>T NP_001243779.1:p.Val12134Leu
NM_003319.4:c.14128G>T NP_003310.4:p.Val4710Leu
NM_133378.4:c.33619G>T NP_596869.4:p.Val11207Leu
NM_133432.3:c.14503G>T NP_597676.3:p.Val4835Leu
NM_133437.4:c.14704G>T NP_597681.4:p.Val4902Leu
ENST00000342175.10:c.14704G>T ENSP00000340554.6:p.Val4902Leu
ENST00000342175.11:c.14704G>T ENSP00000340554.6:p.Val4902Leu
ENST00000342992.10:c.33619G>T ENSP00000343764.6:p.Val11207Leu
ENST00000342992.11:c.33619G>T ENSP00000343764.6:p.Val11207Leu
ENST00000359218.10:c.14503G>T ENSP00000352154.5:p.Val4835Leu
ENST00000359218.9:c.14503G>T ENSP00000352154.5:p.Val4835Leu
ENST00000460472.6:c.14128G>T ENSP00000434586.1:p.Val4710Leu
ENST00000591111.5:c.36400G>T ENSP00000465570.1:p.Val12134Leu
ENST00000615779.4:c.36400G>T ENSP00000483597.1:p.Val12134Leu
XM_011511729.1:c.40420G>T XP_011510031.1:p.Val13474Leu
XM_011511730.1:c.14314G>T XP_011510032.1:p.Val4772Leu
XM_011511731.1:c.14173G>T XP_011510033.1:p.Val4725Leu
XM_017004819.1:c.40216G>T XP_016860308.1:p.Val13406Leu
XM_017004820.1:c.35614G>T XP_016860309.1:p.Val11872Leu
XM_017004821.1:c.35611G>T XP_016860310.1:p.Val11871Leu
XM_017004822.1:c.32653G>T XP_016860311.1:p.Val10885Leu
XM_017004823.1:c.14269G>T XP_016860312.1:p.Val4757Leu
XM_024453094.1:c.35764G>T XP_024308862.1:p.Val11922Leu
XM_024453095.1:c.35761G>T XP_024308863.1:p.Val11921Leu
XM_024453096.1:c.35194G>T XP_024308864.1:p.Val11732Leu
XM_024453097.1:c.32536G>T XP_024308865.1:p.Val10846Leu
XM_024453098.1:c.32455G>T XP_024308866.1:p.Val10819Leu
XM_024453099.1:c.14218G>T XP_024308867.1:p.Val4740Leu
XM_024453100.1:c.4072G>T XP_024308868.1:p.Val1358Leu