Canonical Allele Identifier: CA349440176
Community Standard Title: NM_001267550.2(TTN):c.97358C>G (p.Ser32453Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178542398G>C , CM000664.2:g.178542398G>C GRCh38
NC_000002.11:g.179407125G>C , CM000664.1:g.179407125G>C GRCh37
NC_000002.10:g.179115371G>C NCBI36
NG_011618.3:g.293405C>G , LRG_391:g.293405C>G
NG_051363.1:g.24572G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.97358C>G (TTN) MANE Select NP_001254479.2:p.Ser32453Ter
ENST00000589042.5:c.97358C>G (TTN) MANE Select ENSP00000467141.1:p.Ser32453Ter
NM_001256850.1:c.92435C>G (TTN) NP_001243779.1:p.Ser30812Ter
NM_003319.4:c.70163C>G (TTN) NP_003310.4:p.Ser23388Ter
NM_133378.4:c.89654C>G (TTN) NP_596869.4:p.Ser29885Ter
NM_133432.3:c.70538C>G (TTN) NP_597676.3:p.Ser23513Ter
NM_133437.4:c.70739C>G (TTN) NP_597681.4:p.Ser23580Ter
NR_038271.1:n.446+18762G>C (TTN-AS1)
NR_038272.1:n.2043+37G>C (TTN-AS1)
ENST00000342175.10:c.70739C>G (TTN) ENSP00000340554.6:p.Ser23580Ter
ENST00000342175.11:c.70739C>G (TTN) ENSP00000340554.6:p.Ser23580Ter
ENST00000342992.10:c.89654C>G (TTN) ENSP00000343764.6:p.Ser29885Ter
ENST00000342992.11:c.89654C>G (TTN) ENSP00000343764.6:p.Ser29885Ter
ENST00000359218.10:c.70538C>G (TTN) ENSP00000352154.5:p.Ser23513Ter
ENST00000359218.9:c.70538C>G (TTN) ENSP00000352154.5:p.Ser23513Ter
ENST00000460472.6:c.70163C>G (TTN) ENSP00000434586.1:p.Ser23388Ter
ENST00000591111.5:c.92435C>G (TTN) ENSP00000465570.1:p.Ser30812Ter
ENST00000615779.4:c.92435C>G (TTN) ENSP00000483597.1:p.Ser30812Ter
XM_011511729.1:c.96455C>G (TTN) XP_011510031.1:p.Ser32152Ter
XM_011511730.1:c.70349C>G (TTN) XP_011510032.1:p.Ser23450Ter
XM_011511731.1:c.70208C>G (TTN) XP_011510033.1:p.Ser23403Ter
XM_017004819.1:c.96251C>G (TTN) XP_016860308.1:p.Ser32084Ter
XM_017004820.1:c.91649C>G (TTN) XP_016860309.1:p.Ser30550Ter
XM_017004821.1:c.91646C>G (TTN) XP_016860310.1:p.Ser30549Ter
XM_017004822.1:c.88688C>G (TTN) XP_016860311.1:p.Ser29563Ter
XM_017004823.1:c.70304C>G (TTN) XP_016860312.1:p.Ser23435Ter
XM_024453094.1:c.91799C>G (TTN) XP_024308862.1:p.Ser30600Ter
XM_024453095.1:c.91796C>G (TTN) XP_024308863.1:p.Ser30599Ter
XM_024453096.1:c.91229C>G (TTN) XP_024308864.1:p.Ser30410Ter
XM_024453097.1:c.88571C>G (TTN) XP_024308865.1:p.Ser29524Ter
XM_024453098.1:c.88490C>G (TTN) XP_024308866.1:p.Ser29497Ter
XM_024453099.1:c.70253C>G (TTN) XP_024308867.1:p.Ser23418Ter
XM_024453100.1:c.60107C>G (TTN) XP_024308868.1:p.Ser20036Ter