Canonical Allele Identifier: CA349621045

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179435185G>T (hg19) ; chr2:g.178570458G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570458G>T , CM000664.2:g.178570458G>T	GRCh38
NC_000002.11:g.179435185G>T , CM000664.1:g.179435185G>T	GRCh37
NC_000002.10:g.179143431G>T	NCBI36
NG_011618.3:g.265345C>A , LRG_391:g.265345C>A
NG_051363.1:g.52632G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.67970C>A (TTN)	ENSP00000343764.6:p.Ala22657Asp
ENST00000342175.11:c.49055C>A (TTN)	ENSP00000340554.6:p.Ala16352Asp
ENST00000359218.10:c.48854C>A (TTN)	ENSP00000352154.5:p.Ala16285Asp
ENST00000342175.10:c.49055C>A (TTN)	ENSP00000340554.6:p.Ala16352Asp
ENST00000342992.10:c.67970C>A (TTN)	ENSP00000343764.6:p.Ala22657Asp
ENST00000359218.9:c.48854C>A (TTN)	ENSP00000352154.5:p.Ala16285Asp
ENST00000460472.6:c.48479C>A (TTN)	ENSP00000434586.1:p.Ala16160Asp
ENST00000589042.5:c.75674C>A (TTN) MANE Select	ENSP00000467141.1:p.Ala25225Asp
ENST00000591111.5:c.70751C>A (TTN)	ENSP00000465570.1:p.Ala23584Asp
ENST00000615779.4:c.70751C>A (TTN)	ENSP00000483597.1:p.Ala23584Asp
NM_001256850.1:c.70751C>A (TTN)	NP_001243779.1:p.Ala23584Asp
NM_001267550.2:c.75674C>A (TTN) MANE Select	NP_001254479.2:p.Ala25225Asp
NM_003319.4:c.48479C>A (TTN)	NP_003310.4:p.Ala16160Asp
NM_133378.4:c.67970C>A (TTN)	NP_596869.4:p.Ala22657Asp
NM_133432.3:c.48854C>A (TTN)	NP_597676.3:p.Ala16285Asp
NM_133437.4:c.49055C>A (TTN)	NP_597681.4:p.Ala16352Asp
NR_038271.1:n.447-842G>T (TTN-AS1)
NR_038272.1:n.2044-12114G>T (TTN-AS1)
XM_011511729.1:c.74771C>A (TTN)	XP_011510031.1:p.Ala24924Asp
XM_011511730.1:c.48665C>A (TTN)	XP_011510032.1:p.Ala16222Asp
XM_011511731.1:c.48524C>A (TTN)	XP_011510033.1:p.Ala16175Asp
XM_017004819.1:c.74567C>A (TTN)	XP_016860308.1:p.Ala24856Asp
XM_017004820.1:c.69965C>A (TTN)	XP_016860309.1:p.Ala23322Asp
XM_017004821.1:c.69962C>A (TTN)	XP_016860310.1:p.Ala23321Asp
XM_017004822.1:c.67004C>A (TTN)	XP_016860311.1:p.Ala22335Asp
XM_017004823.1:c.48620C>A (TTN)	XP_016860312.1:p.Ala16207Asp
XM_024453094.1:c.70115C>A (TTN)	XP_024308862.1:p.Ala23372Asp
XM_024453095.1:c.70112C>A (TTN)	XP_024308863.1:p.Ala23371Asp
XM_024453096.1:c.69545C>A (TTN)	XP_024308864.1:p.Ala23182Asp
XM_024453097.1:c.66887C>A (TTN)	XP_024308865.1:p.Ala22296Asp
XM_024453098.1:c.66806C>A (TTN)	XP_024308866.1:p.Ala22269Asp
XM_024453099.1:c.48569C>A (TTN)	XP_024308867.1:p.Ala16190Asp
XM_024453100.1:c.38423C>A (TTN)	XP_024308868.1:p.Ala12808Asp