Canonical Allele Identifier: CA349575009

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178563948A>T , CM000664.2:g.178563948A>T	GRCh38
NC_000002.11:g.179428675A>T , CM000664.1:g.179428675A>T	GRCh37
NC_000002.10:g.179136921A>T	NCBI36
NG_011618.3:g.271855T>A , LRG_391:g.271855T>A
NG_051363.1:g.46122A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.82184T>A (TTN) MANE Select	NP_001254479.2:p.Leu27395Ter
ENST00000589042.5:c.82184T>A (TTN) MANE Select	ENSP00000467141.1:p.Leu27395Ter
NM_001256850.1:c.77261T>A (TTN)	NP_001243779.1:p.Leu25754Ter
NM_003319.4:c.54989T>A (TTN)	NP_003310.4:p.Leu18330Ter
NM_133378.4:c.74480T>A (TTN)	NP_596869.4:p.Leu24827Ter
NM_133432.3:c.55364T>A (TTN)	NP_597676.3:p.Leu18455Ter
NM_133437.4:c.55565T>A (TTN)	NP_597681.4:p.Leu18522Ter
NR_038271.1:n.447-7352A>T (TTN-AS1)
NR_038272.1:n.2044-18624A>T (TTN-AS1)
ENST00000342175.10:c.55565T>A (TTN)	ENSP00000340554.6:p.Leu18522Ter
ENST00000342175.11:c.55565T>A (TTN)	ENSP00000340554.6:p.Leu18522Ter
ENST00000342992.10:c.74480T>A (TTN)	ENSP00000343764.6:p.Leu24827Ter
ENST00000342992.11:c.74480T>A (TTN)	ENSP00000343764.6:p.Leu24827Ter
ENST00000359218.10:c.55364T>A (TTN)	ENSP00000352154.5:p.Leu18455Ter
ENST00000359218.9:c.55364T>A (TTN)	ENSP00000352154.5:p.Leu18455Ter
ENST00000460472.6:c.54989T>A (TTN)	ENSP00000434586.1:p.Leu18330Ter
ENST00000591111.5:c.77261T>A (TTN)	ENSP00000465570.1:p.Leu25754Ter
ENST00000615779.4:c.77261T>A (TTN)	ENSP00000483597.1:p.Leu25754Ter
XM_011511729.1:c.81281T>A (TTN)	XP_011510031.1:p.Leu27094Ter
XM_011511730.1:c.55175T>A (TTN)	XP_011510032.1:p.Leu18392Ter
XM_011511731.1:c.55034T>A (TTN)	XP_011510033.1:p.Leu18345Ter
XM_017004819.1:c.81077T>A (TTN)	XP_016860308.1:p.Leu27026Ter
XM_017004820.1:c.76475T>A (TTN)	XP_016860309.1:p.Leu25492Ter
XM_017004821.1:c.76472T>A (TTN)	XP_016860310.1:p.Leu25491Ter
XM_017004822.1:c.73514T>A (TTN)	XP_016860311.1:p.Leu24505Ter
XM_017004823.1:c.55130T>A (TTN)	XP_016860312.1:p.Leu18377Ter
XM_024453094.1:c.76625T>A (TTN)	XP_024308862.1:p.Leu25542Ter
XM_024453095.1:c.76622T>A (TTN)	XP_024308863.1:p.Leu25541Ter
XM_024453096.1:c.76055T>A (TTN)	XP_024308864.1:p.Leu25352Ter
XM_024453097.1:c.73397T>A (TTN)	XP_024308865.1:p.Leu24466Ter
XM_024453098.1:c.73316T>A (TTN)	XP_024308866.1:p.Leu24439Ter
XM_024453099.1:c.55079T>A (TTN)	XP_024308867.1:p.Leu18360Ter
XM_024453100.1:c.44933T>A (TTN)	XP_024308868.1:p.Leu14978Ter