Canonical Allele Identifier: CA349632206
Community Standard Title: NM_001267550.2(TTN):c.45730G>T (p.Glu15244Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178620880C>A , CM000664.2:g.178620880C>A GRCh38
NC_000002.11:g.179485607C>A , CM000664.1:g.179485607C>A GRCh37
NC_000002.10:g.179193852C>A NCBI36
NG_011618.3:g.214923G>T , LRG_391:g.214923G>T
NG_051363.1:g.103054C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.45730G>T MANE Select NP_001254479.2:p.Glu15244Ter
ENST00000589042.5:c.45730G>T MANE Select ENSP00000467141.1:p.Glu15244Ter
NM_001256850.1:c.40807G>T NP_001243779.1:p.Glu13603Ter
NM_003319.4:c.18535G>T NP_003310.4:p.Glu6179Ter
NM_133378.4:c.38026G>T NP_596869.4:p.Glu12676Ter
NM_133432.3:c.18910G>T NP_597676.3:p.Glu6304Ter
NM_133437.4:c.19111G>T NP_597681.4:p.Glu6371Ter
ENST00000342175.10:c.19111G>T ENSP00000340554.6:p.Glu6371Ter
ENST00000342175.11:c.19111G>T ENSP00000340554.6:p.Glu6371Ter
ENST00000342992.10:c.38026G>T ENSP00000343764.6:p.Glu12676Ter
ENST00000342992.11:c.38026G>T ENSP00000343764.6:p.Glu12676Ter
ENST00000359218.10:c.18910G>T ENSP00000352154.5:p.Glu6304Ter
ENST00000359218.9:c.18910G>T ENSP00000352154.5:p.Glu6304Ter
ENST00000460472.6:c.18535G>T ENSP00000434586.1:p.Glu6179Ter
ENST00000591111.5:c.40807G>T ENSP00000465570.1:p.Glu13603Ter
ENST00000615779.4:c.40807G>T ENSP00000483597.1:p.Glu13603Ter
XM_011511729.1:c.44827G>T XP_011510031.1:p.Glu14943Ter
XM_011511730.1:c.18721G>T XP_011510032.1:p.Glu6241Ter
XM_011511731.1:c.18580G>T XP_011510033.1:p.Glu6194Ter
XM_017004819.1:c.44623G>T XP_016860308.1:p.Glu14875Ter
XM_017004820.1:c.40021G>T XP_016860309.1:p.Glu13341Ter
XM_017004821.1:c.40018G>T XP_016860310.1:p.Glu13340Ter
XM_017004822.1:c.37060G>T XP_016860311.1:p.Glu12354Ter
XM_017004823.1:c.18676G>T XP_016860312.1:p.Glu6226Ter
XM_024453094.1:c.40171G>T XP_024308862.1:p.Glu13391Ter
XM_024453095.1:c.40168G>T XP_024308863.1:p.Glu13390Ter
XM_024453096.1:c.39601G>T XP_024308864.1:p.Glu13201Ter
XM_024453097.1:c.36943G>T XP_024308865.1:p.Glu12315Ter
XM_024453098.1:c.36862G>T XP_024308866.1:p.Glu12288Ter
XM_024453099.1:c.18625G>T XP_024308867.1:p.Glu6209Ter
XM_024453100.1:c.8479G>T XP_024308868.1:p.Glu2827Ter