Canonical Allele Identifier: CA349649369
Community Standard Title: NM_001267550.2(TTN):c.43693C>T (p.Gln14565Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178632201G>A , CM000664.2:g.178632201G>A GRCh38
NC_000002.11:g.179496928G>A , CM000664.1:g.179496928G>A GRCh37
NC_000002.10:g.179205173G>A NCBI36
NG_011618.3:g.203602C>T , LRG_391:g.203602C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.43693C>T MANE Select NP_001254479.2:p.Gln14565Ter
ENST00000589042.5:c.43693C>T MANE Select ENSP00000467141.1:p.Gln14565Ter
NM_001256850.1:c.38770C>T NP_001243779.1:p.Gln12924Ter
NM_003319.4:c.16498C>T NP_003310.4:p.Gln5500Ter
NM_133378.4:c.35989C>T NP_596869.4:p.Gln11997Ter
NM_133432.3:c.16873C>T NP_597676.3:p.Gln5625Ter
NM_133437.4:c.17074C>T NP_597681.4:p.Gln5692Ter
ENST00000342175.10:c.17074C>T ENSP00000340554.6:p.Gln5692Ter
ENST00000342175.11:c.17074C>T ENSP00000340554.6:p.Gln5692Ter
ENST00000342992.10:c.35989C>T ENSP00000343764.6:p.Gln11997Ter
ENST00000342992.11:c.35989C>T ENSP00000343764.6:p.Gln11997Ter
ENST00000359218.10:c.16873C>T ENSP00000352154.5:p.Gln5625Ter
ENST00000359218.9:c.16873C>T ENSP00000352154.5:p.Gln5625Ter
ENST00000460472.6:c.16498C>T ENSP00000434586.1:p.Gln5500Ter
ENST00000591111.5:c.38770C>T ENSP00000465570.1:p.Gln12924Ter
ENST00000615779.4:c.38770C>T ENSP00000483597.1:p.Gln12924Ter
XM_011511729.1:c.42790C>T XP_011510031.1:p.Gln14264Ter
XM_011511730.1:c.16684C>T XP_011510032.1:p.Gln5562Ter
XM_011511731.1:c.16543C>T XP_011510033.1:p.Gln5515Ter
XM_017004819.1:c.42586C>T XP_016860308.1:p.Gln14196Ter
XM_017004820.1:c.37984C>T XP_016860309.1:p.Gln12662Ter
XM_017004821.1:c.37981C>T XP_016860310.1:p.Gln12661Ter
XM_017004822.1:c.35023C>T XP_016860311.1:p.Gln11675Ter
XM_017004823.1:c.16639C>T XP_016860312.1:p.Gln5547Ter
XM_024453094.1:c.38134C>T XP_024308862.1:p.Gln12712Ter
XM_024453095.1:c.38131C>T XP_024308863.1:p.Gln12711Ter
XM_024453096.1:c.37564C>T XP_024308864.1:p.Gln12522Ter
XM_024453097.1:c.34906C>T XP_024308865.1:p.Gln11636Ter
XM_024453098.1:c.34825C>T XP_024308866.1:p.Gln11609Ter
XM_024453099.1:c.16588C>T XP_024308867.1:p.Gln5530Ter
XM_024453100.1:c.6442C>T XP_024308868.1:p.Gln2148Ter