Canonical Allele Identifier: CA349653008
Community Standard Title: NM_001267550.2(TTN):c.71525C>G (p.Ser23842Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178574607G>C , CM000664.2:g.178574607G>C GRCh38
NC_000002.11:g.179439334G>C , CM000664.1:g.179439334G>C GRCh37
NC_000002.10:g.179147580G>C NCBI36
NG_011618.3:g.261196C>G , LRG_391:g.261196C>G
NG_051363.1:g.56781G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.71525C>G (TTN) MANE Select NP_001254479.2:p.Ser23842Ter
ENST00000589042.5:c.71525C>G (TTN) MANE Select ENSP00000467141.1:p.Ser23842Ter
NM_001256850.1:c.66602C>G (TTN) NP_001243779.1:p.Ser22201Ter
NM_003319.4:c.44330C>G (TTN) NP_003310.4:p.Ser14777Ter
NM_133378.4:c.63821C>G (TTN) NP_596869.4:p.Ser21274Ter
NM_133432.3:c.44705C>G (TTN) NP_597676.3:p.Ser14902Ter
NM_133437.4:c.44906C>G (TTN) NP_597681.4:p.Ser14969Ter
NR_038271.1:n.596+3158G>C (TTN-AS1)
NR_038272.1:n.2044-7965G>C (TTN-AS1)
ENST00000342175.10:c.44906C>G (TTN) ENSP00000340554.6:p.Ser14969Ter
ENST00000342175.11:c.44906C>G (TTN) ENSP00000340554.6:p.Ser14969Ter
ENST00000342992.10:c.63821C>G (TTN) ENSP00000343764.6:p.Ser21274Ter
ENST00000342992.11:c.63821C>G (TTN) ENSP00000343764.6:p.Ser21274Ter
ENST00000359218.10:c.44705C>G (TTN) ENSP00000352154.5:p.Ser14902Ter
ENST00000359218.9:c.44705C>G (TTN) ENSP00000352154.5:p.Ser14902Ter
ENST00000460472.6:c.44330C>G (TTN) ENSP00000434586.1:p.Ser14777Ter
ENST00000591111.5:c.66602C>G (TTN) ENSP00000465570.1:p.Ser22201Ter
ENST00000615779.4:c.66602C>G (TTN) ENSP00000483597.1:p.Ser22201Ter
XM_011511729.1:c.70622C>G (TTN) XP_011510031.1:p.Ser23541Ter
XM_011511730.1:c.44516C>G (TTN) XP_011510032.1:p.Ser14839Ter
XM_011511731.1:c.44375C>G (TTN) XP_011510033.1:p.Ser14792Ter
XM_017004819.1:c.70418C>G (TTN) XP_016860308.1:p.Ser23473Ter
XM_017004820.1:c.65816C>G (TTN) XP_016860309.1:p.Ser21939Ter
XM_017004821.1:c.65813C>G (TTN) XP_016860310.1:p.Ser21938Ter
XM_017004822.1:c.62855C>G (TTN) XP_016860311.1:p.Ser20952Ter
XM_017004823.1:c.44471C>G (TTN) XP_016860312.1:p.Ser14824Ter
XM_024453094.1:c.65966C>G (TTN) XP_024308862.1:p.Ser21989Ter
XM_024453095.1:c.65963C>G (TTN) XP_024308863.1:p.Ser21988Ter
XM_024453096.1:c.65396C>G (TTN) XP_024308864.1:p.Ser21799Ter
XM_024453097.1:c.62738C>G (TTN) XP_024308865.1:p.Ser20913Ter
XM_024453098.1:c.62657C>G (TTN) XP_024308866.1:p.Ser20886Ter
XM_024453099.1:c.44420C>G (TTN) XP_024308867.1:p.Ser14807Ter
XM_024453100.1:c.34274C>G (TTN) XP_024308868.1:p.Ser11425Ter