Canonical Allele Identifier: CA349412400
Community Standard Title: NM_001267550.2(TTN):c.104132C>G (p.Ser34711Cys)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532483G>C , CM000664.2:g.178532483G>C GRCh38
NC_000002.11:g.179397210G>C , CM000664.1:g.179397210G>C GRCh37
NC_000002.10:g.179105456G>C NCBI36
NG_011618.3:g.303320C>G , LRG_391:g.303320C>G
NG_051363.1:g.14657G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.104132C>G (TTN) MANE Select NP_001254479.2:p.Ser34711Cys
ENST00000589042.5:c.104132C>G (TTN) MANE Select ENSP00000467141.1:p.Ser34711Cys
NM_001256850.1:c.99209C>G (TTN) NP_001243779.1:p.Ser33070Cys
NM_003319.4:c.76937C>G (TTN) NP_003310.4:p.Ser25646Cys
NM_133378.4:c.96428C>G (TTN) NP_596869.4:p.Ser32143Cys
NM_133432.3:c.77312C>G (TTN) NP_597676.3:p.Ser25771Cys
NM_133437.4:c.77513C>G (TTN) NP_597681.4:p.Ser25838Cys
NR_038271.1:n.446+8847G>C (TTN-AS1)
NR_038272.1:n.220-3249G>C (TTN-AS1)
ENST00000342175.10:c.77513C>G (TTN) ENSP00000340554.6:p.Ser25838Cys
ENST00000342175.11:c.77513C>G (TTN) ENSP00000340554.6:p.Ser25838Cys
ENST00000342992.10:c.96428C>G (TTN) ENSP00000343764.6:p.Ser32143Cys
ENST00000342992.11:c.96428C>G (TTN) ENSP00000343764.6:p.Ser32143Cys
ENST00000359218.10:c.77312C>G (TTN) ENSP00000352154.5:p.Ser25771Cys
ENST00000359218.9:c.77312C>G (TTN) ENSP00000352154.5:p.Ser25771Cys
ENST00000460472.6:c.76937C>G (TTN) ENSP00000434586.1:p.Ser25646Cys
ENST00000591111.5:c.99209C>G (TTN) ENSP00000465570.1:p.Ser33070Cys
ENST00000615779.4:c.99209C>G (TTN) ENSP00000483597.1:p.Ser33070Cys
XM_011511729.1:c.103229C>G (TTN) XP_011510031.1:p.Ser34410Cys
XM_011511730.1:c.77123C>G (TTN) XP_011510032.1:p.Ser25708Cys
XM_011511731.1:c.76982C>G (TTN) XP_011510033.1:p.Ser25661Cys
XM_017004819.1:c.103025C>G (TTN) XP_016860308.1:p.Ser34342Cys
XM_017004820.1:c.98423C>G (TTN) XP_016860309.1:p.Ser32808Cys
XM_017004821.1:c.98420C>G (TTN) XP_016860310.1:p.Ser32807Cys
XM_017004822.1:c.95462C>G (TTN) XP_016860311.1:p.Ser31821Cys
XM_017004823.1:c.77078C>G (TTN) XP_016860312.1:p.Ser25693Cys
XM_024453094.1:c.98573C>G (TTN) XP_024308862.1:p.Ser32858Cys
XM_024453095.1:c.98570C>G (TTN) XP_024308863.1:p.Ser32857Cys
XM_024453096.1:c.98003C>G (TTN) XP_024308864.1:p.Ser32668Cys
XM_024453097.1:c.95345C>G (TTN) XP_024308865.1:p.Ser31782Cys
XM_024453098.1:c.95264C>G (TTN) XP_024308866.1:p.Ser31755Cys
XM_024453099.1:c.77027C>G (TTN) XP_024308867.1:p.Ser25676Cys
XM_024453100.1:c.66881C>G (TTN) XP_024308868.1:p.Ser22294Cys