Canonical Allele Identifier: CA349610034
Community Standard Title: NM_001267550.2(TTN):c.77546C>G (p.Ser25849Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178568586G>C , CM000664.2:g.178568586G>C GRCh38
NC_000002.11:g.179433313G>C , CM000664.1:g.179433313G>C GRCh37
NC_000002.10:g.179141559G>C NCBI36
NG_011618.3:g.267217C>G , LRG_391:g.267217C>G
NG_051363.1:g.50760G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.77546C>G (TTN) MANE Select NP_001254479.2:p.Ser25849Ter
ENST00000589042.5:c.77546C>G (TTN) MANE Select ENSP00000467141.1:p.Ser25849Ter
NM_001256850.1:c.72623C>G (TTN) NP_001243779.1:p.Ser24208Ter
NM_003319.4:c.50351C>G (TTN) NP_003310.4:p.Ser16784Ter
NM_133378.4:c.69842C>G (TTN) NP_596869.4:p.Ser23281Ter
NM_133432.3:c.50726C>G (TTN) NP_597676.3:p.Ser16909Ter
NM_133437.4:c.50927C>G (TTN) NP_597681.4:p.Ser16976Ter
NR_038271.1:n.447-2714G>C (TTN-AS1)
NR_038272.1:n.2044-13986G>C (TTN-AS1)
ENST00000342175.10:c.50927C>G (TTN) ENSP00000340554.6:p.Ser16976Ter
ENST00000342175.11:c.50927C>G (TTN) ENSP00000340554.6:p.Ser16976Ter
ENST00000342992.10:c.69842C>G (TTN) ENSP00000343764.6:p.Ser23281Ter
ENST00000342992.11:c.69842C>G (TTN) ENSP00000343764.6:p.Ser23281Ter
ENST00000359218.10:c.50726C>G (TTN) ENSP00000352154.5:p.Ser16909Ter
ENST00000359218.9:c.50726C>G (TTN) ENSP00000352154.5:p.Ser16909Ter
ENST00000460472.6:c.50351C>G (TTN) ENSP00000434586.1:p.Ser16784Ter
ENST00000591111.5:c.72623C>G (TTN) ENSP00000465570.1:p.Ser24208Ter
ENST00000615779.4:c.72623C>G (TTN) ENSP00000483597.1:p.Ser24208Ter
XM_011511729.1:c.76643C>G (TTN) XP_011510031.1:p.Ser25548Ter
XM_011511730.1:c.50537C>G (TTN) XP_011510032.1:p.Ser16846Ter
XM_011511731.1:c.50396C>G (TTN) XP_011510033.1:p.Ser16799Ter
XM_017004819.1:c.76439C>G (TTN) XP_016860308.1:p.Ser25480Ter
XM_017004820.1:c.71837C>G (TTN) XP_016860309.1:p.Ser23946Ter
XM_017004821.1:c.71834C>G (TTN) XP_016860310.1:p.Ser23945Ter
XM_017004822.1:c.68876C>G (TTN) XP_016860311.1:p.Ser22959Ter
XM_017004823.1:c.50492C>G (TTN) XP_016860312.1:p.Ser16831Ter
XM_024453094.1:c.71987C>G (TTN) XP_024308862.1:p.Ser23996Ter
XM_024453095.1:c.71984C>G (TTN) XP_024308863.1:p.Ser23995Ter
XM_024453096.1:c.71417C>G (TTN) XP_024308864.1:p.Ser23806Ter
XM_024453097.1:c.68759C>G (TTN) XP_024308865.1:p.Ser22920Ter
XM_024453098.1:c.68678C>G (TTN) XP_024308866.1:p.Ser22893Ter
XM_024453099.1:c.50441C>G (TTN) XP_024308867.1:p.Ser16814Ter
XM_024453100.1:c.40295C>G (TTN) XP_024308868.1:p.Ser13432Ter