Canonical Allele Identifier: CA349641146
Community Standard Title: NM_001267550.2(TTN):c.44584C>T (p.Gln14862Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178624696G>A , CM000664.2:g.178624696G>A GRCh38
NC_000002.11:g.179489423G>A , CM000664.1:g.179489423G>A GRCh37
NC_000002.10:g.179197668G>A NCBI36
NG_011618.3:g.211107C>T , LRG_391:g.211107C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.44584C>T MANE Select NP_001254479.2:p.Gln14862Ter
ENST00000589042.5:c.44584C>T MANE Select ENSP00000467141.1:p.Gln14862Ter
NM_001256850.1:c.39661C>T NP_001243779.1:p.Gln13221Ter
NM_003319.4:c.17389C>T NP_003310.4:p.Gln5797Ter
NM_133378.4:c.36880C>T NP_596869.4:p.Gln12294Ter
NM_133432.3:c.17764C>T NP_597676.3:p.Gln5922Ter
NM_133437.4:c.17965C>T NP_597681.4:p.Gln5989Ter
ENST00000342175.10:c.17965C>T ENSP00000340554.6:p.Gln5989Ter
ENST00000342175.11:c.17965C>T ENSP00000340554.6:p.Gln5989Ter
ENST00000342992.10:c.36880C>T ENSP00000343764.6:p.Gln12294Ter
ENST00000342992.11:c.36880C>T ENSP00000343764.6:p.Gln12294Ter
ENST00000359218.10:c.17764C>T ENSP00000352154.5:p.Gln5922Ter
ENST00000359218.9:c.17764C>T ENSP00000352154.5:p.Gln5922Ter
ENST00000460472.6:c.17389C>T ENSP00000434586.1:p.Gln5797Ter
ENST00000591111.5:c.39661C>T ENSP00000465570.1:p.Gln13221Ter
ENST00000615779.4:c.39661C>T ENSP00000483597.1:p.Gln13221Ter
XM_011511729.1:c.43681C>T XP_011510031.1:p.Gln14561Ter
XM_011511730.1:c.17575C>T XP_011510032.1:p.Gln5859Ter
XM_011511731.1:c.17434C>T XP_011510033.1:p.Gln5812Ter
XM_017004819.1:c.43477C>T XP_016860308.1:p.Gln14493Ter
XM_017004820.1:c.38875C>T XP_016860309.1:p.Gln12959Ter
XM_017004821.1:c.38872C>T XP_016860310.1:p.Gln12958Ter
XM_017004822.1:c.35914C>T XP_016860311.1:p.Gln11972Ter
XM_017004823.1:c.17530C>T XP_016860312.1:p.Gln5844Ter
XM_024453094.1:c.39025C>T XP_024308862.1:p.Gln13009Ter
XM_024453095.1:c.39022C>T XP_024308863.1:p.Gln13008Ter
XM_024453096.1:c.38455C>T XP_024308864.1:p.Gln12819Ter
XM_024453097.1:c.35797C>T XP_024308865.1:p.Gln11933Ter
XM_024453098.1:c.35716C>T XP_024308866.1:p.Gln11906Ter
XM_024453099.1:c.17479C>T XP_024308867.1:p.Gln5827Ter
XM_024453100.1:c.7333C>T XP_024308868.1:p.Gln2445Ter