Canonical Allele Identifier: CA349412748
Community Standard Title: NM_001267550.2(TTN):c.104012T>G (p.Leu34671Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532603A>C , CM000664.2:g.178532603A>C GRCh38
NC_000002.11:g.179397330A>C , CM000664.1:g.179397330A>C GRCh37
NC_000002.10:g.179105576A>C NCBI36
NG_011618.3:g.303200T>G , LRG_391:g.303200T>G
NG_051363.1:g.14777A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.104012T>G (TTN) MANE Select NP_001254479.2:p.Leu34671Ter
ENST00000589042.5:c.104012T>G (TTN) MANE Select ENSP00000467141.1:p.Leu34671Ter
NM_001256850.1:c.99089T>G (TTN) NP_001243779.1:p.Leu33030Ter
NM_003319.4:c.76817T>G (TTN) NP_003310.4:p.Leu25606Ter
NM_133378.4:c.96308T>G (TTN) NP_596869.4:p.Leu32103Ter
NM_133432.3:c.77192T>G (TTN) NP_597676.3:p.Leu25731Ter
NM_133437.4:c.77393T>G (TTN) NP_597681.4:p.Leu25798Ter
NR_038271.1:n.446+8967A>C (TTN-AS1)
NR_038272.1:n.220-3129A>C (TTN-AS1)
ENST00000342175.10:c.77393T>G (TTN) ENSP00000340554.6:p.Leu25798Ter
ENST00000342175.11:c.77393T>G (TTN) ENSP00000340554.6:p.Leu25798Ter
ENST00000342992.10:c.96308T>G (TTN) ENSP00000343764.6:p.Leu32103Ter
ENST00000342992.11:c.96308T>G (TTN) ENSP00000343764.6:p.Leu32103Ter
ENST00000359218.10:c.77192T>G (TTN) ENSP00000352154.5:p.Leu25731Ter
ENST00000359218.9:c.77192T>G (TTN) ENSP00000352154.5:p.Leu25731Ter
ENST00000460472.6:c.76817T>G (TTN) ENSP00000434586.1:p.Leu25606Ter
ENST00000591111.5:c.99089T>G (TTN) ENSP00000465570.1:p.Leu33030Ter
ENST00000615779.4:c.99089T>G (TTN) ENSP00000483597.1:p.Leu33030Ter
XM_011511729.1:c.103109T>G (TTN) XP_011510031.1:p.Leu34370Ter
XM_011511730.1:c.77003T>G (TTN) XP_011510032.1:p.Leu25668Ter
XM_011511731.1:c.76862T>G (TTN) XP_011510033.1:p.Leu25621Ter
XM_017004819.1:c.102905T>G (TTN) XP_016860308.1:p.Leu34302Ter
XM_017004820.1:c.98303T>G (TTN) XP_016860309.1:p.Leu32768Ter
XM_017004821.1:c.98300T>G (TTN) XP_016860310.1:p.Leu32767Ter
XM_017004822.1:c.95342T>G (TTN) XP_016860311.1:p.Leu31781Ter
XM_017004823.1:c.76958T>G (TTN) XP_016860312.1:p.Leu25653Ter
XM_024453094.1:c.98453T>G (TTN) XP_024308862.1:p.Leu32818Ter
XM_024453095.1:c.98450T>G (TTN) XP_024308863.1:p.Leu32817Ter
XM_024453096.1:c.97883T>G (TTN) XP_024308864.1:p.Leu32628Ter
XM_024453097.1:c.95225T>G (TTN) XP_024308865.1:p.Leu31742Ter
XM_024453098.1:c.95144T>G (TTN) XP_024308866.1:p.Leu31715Ter
XM_024453099.1:c.76907T>G (TTN) XP_024308867.1:p.Leu25636Ter
XM_024453100.1:c.66761T>G (TTN) XP_024308868.1:p.Leu22254Ter