Canonical Allele Identifier: CA430245542
Community Standard Title: NM_001267550.2(TTN):c.90180C>T (p.Ser30060=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552720G>A , CM000664.2:g.178552720G>A GRCh38
NC_000002.11:g.179417447G>A , CM000664.1:g.179417447G>A GRCh37
NC_000002.10:g.179125693G>A NCBI36
NG_011618.3:g.283083C>T , LRG_391:g.283083C>T
NG_051363.1:g.34894G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.90180C>T (TTN) MANE Select NP_001254479.2:p.Ser30060=
ENST00000589042.5:c.90180C>T (TTN) MANE Select ENSP00000467141.1:p.Ser30060=
NM_001256850.1:c.85257C>T (TTN) NP_001243779.1:p.Ser28419=
NM_003319.4:c.62985C>T (TTN) NP_003310.4:p.Ser20995=
NM_133378.4:c.82476C>T (TTN) NP_596869.4:p.Ser27492=
NM_133432.3:c.63360C>T (TTN) NP_597676.3:p.Ser21120=
NM_133437.4:c.63561C>T (TTN) NP_597681.4:p.Ser21187=
NR_038271.1:n.447-18580G>A (TTN-AS1)
NR_038272.1:n.2043+10359G>A (TTN-AS1)
ENST00000342175.10:c.63561C>T (TTN) ENSP00000340554.6:p.Ser21187=
ENST00000342175.11:c.63561C>T (TTN) ENSP00000340554.6:p.Ser21187=
ENST00000342992.10:c.82476C>T (TTN) ENSP00000343764.6:p.Ser27492=
ENST00000342992.11:c.82476C>T (TTN) ENSP00000343764.6:p.Ser27492=
ENST00000359218.10:c.63360C>T (TTN) ENSP00000352154.5:p.Ser21120=
ENST00000359218.9:c.63360C>T (TTN) ENSP00000352154.5:p.Ser21120=
ENST00000460472.6:c.62985C>T (TTN) ENSP00000434586.1:p.Ser20995=
ENST00000591111.5:c.85257C>T (TTN) ENSP00000465570.1:p.Ser28419=
ENST00000615779.4:c.85257C>T (TTN) ENSP00000483597.1:p.Ser28419=
XM_011511729.1:c.89277C>T (TTN) XP_011510031.1:p.Ser29759=
XM_011511730.1:c.63171C>T (TTN) XP_011510032.1:p.Ser21057=
XM_011511731.1:c.63030C>T (TTN) XP_011510033.1:p.Ser21010=
XM_017004819.1:c.89073C>T (TTN) XP_016860308.1:p.Ser29691=
XM_017004820.1:c.84471C>T (TTN) XP_016860309.1:p.Ser28157=
XM_017004821.1:c.84468C>T (TTN) XP_016860310.1:p.Ser28156=
XM_017004822.1:c.81510C>T (TTN) XP_016860311.1:p.Ser27170=
XM_017004823.1:c.63126C>T (TTN) XP_016860312.1:p.Ser21042=
XM_024453094.1:c.84621C>T (TTN) XP_024308862.1:p.Ser28207=
XM_024453095.1:c.84618C>T (TTN) XP_024308863.1:p.Ser28206=
XM_024453096.1:c.84051C>T (TTN) XP_024308864.1:p.Ser28017=
XM_024453097.1:c.81393C>T (TTN) XP_024308865.1:p.Ser27131=
XM_024453098.1:c.81312C>T (TTN) XP_024308866.1:p.Ser27104=
XM_024453099.1:c.63075C>T (TTN) XP_024308867.1:p.Ser21025=
XM_024453100.1:c.52929C>T (TTN) XP_024308868.1:p.Ser17643=