Canonical Allele Identifier: CA430095222
Community Standard Title: NM_001267550.2(TTN):c.57441C>T (p.Ser19147=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178597641G>A , CM000664.2:g.178597641G>A GRCh38
NC_000002.11:g.179462368G>A , CM000664.1:g.179462368G>A GRCh37
NC_000002.10:g.179170613G>A NCBI36
NG_011618.3:g.238162C>T , LRG_391:g.238162C>T
NG_051363.1:g.79815G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.57441C>T (TTN) MANE Select NP_001254479.2:p.Ser19147=
ENST00000589042.5:c.57441C>T (TTN) MANE Select ENSP00000467141.1:p.Ser19147=
NM_001256850.1:c.52518C>T (TTN) NP_001243779.1:p.Ser17506=
NM_003319.4:c.30246C>T (TTN) NP_003310.4:p.Ser10082=
NM_133378.4:c.49737C>T (TTN) NP_596869.4:p.Ser16579=
NM_133432.3:c.30621C>T (TTN) NP_597676.3:p.Ser10207=
NM_133437.4:c.30822C>T (TTN) NP_597681.4:p.Ser10274=
NR_038271.1:n.642G>A (TTN-AS1)
NR_038272.1:n.3410G>A (TTN-AS1)
ENST00000342175.10:c.30822C>T (TTN) ENSP00000340554.6:p.Ser10274=
ENST00000342175.11:c.30822C>T (TTN) ENSP00000340554.6:p.Ser10274=
ENST00000342992.10:c.49737C>T (TTN) ENSP00000343764.6:p.Ser16579=
ENST00000342992.11:c.49737C>T (TTN) ENSP00000343764.6:p.Ser16579=
ENST00000359218.10:c.30621C>T (TTN) ENSP00000352154.5:p.Ser10207=
ENST00000359218.9:c.30621C>T (TTN) ENSP00000352154.5:p.Ser10207=
ENST00000460472.6:c.30246C>T (TTN) ENSP00000434586.1:p.Ser10082=
ENST00000591111.5:c.52518C>T (TTN) ENSP00000465570.1:p.Ser17506=
ENST00000615779.4:c.52518C>T (TTN) ENSP00000483597.1:p.Ser17506=
XM_011511729.1:c.56538C>T (TTN) XP_011510031.1:p.Ser18846=
XM_011511730.1:c.30432C>T (TTN) XP_011510032.1:p.Ser10144=
XM_011511731.1:c.30291C>T (TTN) XP_011510033.1:p.Ser10097=
XM_017004819.1:c.56334C>T (TTN) XP_016860308.1:p.Ser18778=
XM_017004820.1:c.51732C>T (TTN) XP_016860309.1:p.Ser17244=
XM_017004821.1:c.51729C>T (TTN) XP_016860310.1:p.Ser17243=
XM_017004822.1:c.48771C>T (TTN) XP_016860311.1:p.Ser16257=
XM_017004823.1:c.30387C>T (TTN) XP_016860312.1:p.Ser10129=
XM_024453094.1:c.51882C>T (TTN) XP_024308862.1:p.Ser17294=
XM_024453095.1:c.51879C>T (TTN) XP_024308863.1:p.Ser17293=
XM_024453096.1:c.51312C>T (TTN) XP_024308864.1:p.Ser17104=
XM_024453097.1:c.48654C>T (TTN) XP_024308865.1:p.Ser16218=
XM_024453098.1:c.48573C>T (TTN) XP_024308866.1:p.Ser16191=
XM_024453099.1:c.30336C>T (TTN) XP_024308867.1:p.Ser10112=
XM_024453100.1:c.20190C>T (TTN) XP_024308868.1:p.Ser6730=