Canonical Allele Identifier: CA349513738
Community Standard Title: NM_001267550.2(TTN):c.90113C>G (p.Ser30038Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552787G>C , CM000664.2:g.178552787G>C GRCh38
NC_000002.11:g.179417514G>C , CM000664.1:g.179417514G>C GRCh37
NC_000002.10:g.179125760G>C NCBI36
NG_011618.3:g.283016C>G , LRG_391:g.283016C>G
NG_051363.1:g.34961G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.90113C>G (TTN) MANE Select NP_001254479.2:p.Ser30038Ter
ENST00000589042.5:c.90113C>G (TTN) MANE Select ENSP00000467141.1:p.Ser30038Ter
NM_001256850.1:c.85190C>G (TTN) NP_001243779.1:p.Ser28397Ter
NM_003319.4:c.62918C>G (TTN) NP_003310.4:p.Ser20973Ter
NM_133378.4:c.82409C>G (TTN) NP_596869.4:p.Ser27470Ter
NM_133432.3:c.63293C>G (TTN) NP_597676.3:p.Ser21098Ter
NM_133437.4:c.63494C>G (TTN) NP_597681.4:p.Ser21165Ter
NR_038271.1:n.447-18513G>C (TTN-AS1)
NR_038272.1:n.2043+10426G>C (TTN-AS1)
ENST00000342175.10:c.63494C>G (TTN) ENSP00000340554.6:p.Ser21165Ter
ENST00000342175.11:c.63494C>G (TTN) ENSP00000340554.6:p.Ser21165Ter
ENST00000342992.10:c.82409C>G (TTN) ENSP00000343764.6:p.Ser27470Ter
ENST00000342992.11:c.82409C>G (TTN) ENSP00000343764.6:p.Ser27470Ter
ENST00000359218.10:c.63293C>G (TTN) ENSP00000352154.5:p.Ser21098Ter
ENST00000359218.9:c.63293C>G (TTN) ENSP00000352154.5:p.Ser21098Ter
ENST00000460472.6:c.62918C>G (TTN) ENSP00000434586.1:p.Ser20973Ter
ENST00000591111.5:c.85190C>G (TTN) ENSP00000465570.1:p.Ser28397Ter
ENST00000615779.4:c.85190C>G (TTN) ENSP00000483597.1:p.Ser28397Ter
XM_011511729.1:c.89210C>G (TTN) XP_011510031.1:p.Ser29737Ter
XM_011511730.1:c.63104C>G (TTN) XP_011510032.1:p.Ser21035Ter
XM_011511731.1:c.62963C>G (TTN) XP_011510033.1:p.Ser20988Ter
XM_017004819.1:c.89006C>G (TTN) XP_016860308.1:p.Ser29669Ter
XM_017004820.1:c.84404C>G (TTN) XP_016860309.1:p.Ser28135Ter
XM_017004821.1:c.84401C>G (TTN) XP_016860310.1:p.Ser28134Ter
XM_017004822.1:c.81443C>G (TTN) XP_016860311.1:p.Ser27148Ter
XM_017004823.1:c.63059C>G (TTN) XP_016860312.1:p.Ser21020Ter
XM_024453094.1:c.84554C>G (TTN) XP_024308862.1:p.Ser28185Ter
XM_024453095.1:c.84551C>G (TTN) XP_024308863.1:p.Ser28184Ter
XM_024453096.1:c.83984C>G (TTN) XP_024308864.1:p.Ser27995Ter
XM_024453097.1:c.81326C>G (TTN) XP_024308865.1:p.Ser27109Ter
XM_024453098.1:c.81245C>G (TTN) XP_024308866.1:p.Ser27082Ter
XM_024453099.1:c.63008C>G (TTN) XP_024308867.1:p.Ser21003Ter
XM_024453100.1:c.52862C>G (TTN) XP_024308868.1:p.Ser17621Ter