Canonical Allele Identifier: CA1992213
Community Standard Title: NM_001267550.2(TTN):c.62546C>T (p.Thr20849Met)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178589179G>A , CM000664.2:g.178589179G>A GRCh38
NC_000002.11:g.179453906G>A , CM000664.1:g.179453906G>A GRCh37
NC_000002.10:g.179162152G>A NCBI36
NG_011618.3:g.246624C>T , LRG_391:g.246624C>T
NG_051363.1:g.71353G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.62546C>T (TTN) MANE Select NP_001254479.2:p.Thr20849Met
ENST00000589042.5:c.62546C>T (TTN) MANE Select ENSP00000467141.1:p.Thr20849Met
NM_001256850.1:c.57623C>T (TTN) NP_001243779.1:p.Thr19208Met
NM_003319.4:c.35351C>T (TTN) NP_003310.4:p.Thr11784Met
NM_133378.4:c.54842C>T (TTN) NP_596869.4:p.Thr18281Met
NM_133432.3:c.35726C>T (TTN) NP_597676.3:p.Thr11909Met
NM_133437.4:c.35927C>T (TTN) NP_597681.4:p.Thr11976Met
NR_038271.1:n.597-8417G>A (TTN-AS1)
NR_038272.1:n.3189-1960G>A (TTN-AS1)
ENST00000342175.10:c.35927C>T (TTN) ENSP00000340554.6:p.Thr11976Met
ENST00000342175.11:c.35927C>T (TTN) ENSP00000340554.6:p.Thr11976Met
ENST00000342992.10:c.54842C>T (TTN) ENSP00000343764.6:p.Thr18281Met
ENST00000342992.11:c.54842C>T (TTN) ENSP00000343764.6:p.Thr18281Met
ENST00000359218.10:c.35726C>T (TTN) ENSP00000352154.5:p.Thr11909Met
ENST00000359218.9:c.35726C>T (TTN) ENSP00000352154.5:p.Thr11909Met
ENST00000460472.6:c.35351C>T (TTN) ENSP00000434586.1:p.Thr11784Met
ENST00000591111.5:c.57623C>T (TTN) ENSP00000465570.1:p.Thr19208Met
ENST00000615779.4:c.57623C>T (TTN) ENSP00000483597.1:p.Thr19208Met
XM_011511729.1:c.61643C>T (TTN) XP_011510031.1:p.Thr20548Met
XM_011511730.1:c.35537C>T (TTN) XP_011510032.1:p.Thr11846Met
XM_011511731.1:c.35396C>T (TTN) XP_011510033.1:p.Thr11799Met
XM_017004819.1:c.61439C>T (TTN) XP_016860308.1:p.Thr20480Met
XM_017004820.1:c.56837C>T (TTN) XP_016860309.1:p.Thr18946Met
XM_017004821.1:c.56834C>T (TTN) XP_016860310.1:p.Thr18945Met
XM_017004822.1:c.53876C>T (TTN) XP_016860311.1:p.Thr17959Met
XM_017004823.1:c.35492C>T (TTN) XP_016860312.1:p.Thr11831Met
XM_024453094.1:c.56987C>T (TTN) XP_024308862.1:p.Thr18996Met
XM_024453095.1:c.56984C>T (TTN) XP_024308863.1:p.Thr18995Met
XM_024453096.1:c.56417C>T (TTN) XP_024308864.1:p.Thr18806Met
XM_024453097.1:c.53759C>T (TTN) XP_024308865.1:p.Thr17920Met
XM_024453098.1:c.53678C>T (TTN) XP_024308866.1:p.Thr17893Met
XM_024453099.1:c.35441C>T (TTN) XP_024308867.1:p.Thr11814Met
XM_024453100.1:c.25295C>T (TTN) XP_024308868.1:p.Thr8432Met