Canonical Allele Identifier: CA349601330

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179432118G>T (hg19) ; chr2:g.178567391G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567391G>T , CM000664.2:g.178567391G>T	GRCh38
NC_000002.11:g.179432118G>T , CM000664.1:g.179432118G>T	GRCh37
NC_000002.10:g.179140364G>T	NCBI36
NG_011618.3:g.268412C>A , LRG_391:g.268412C>A
NG_051363.1:g.49565G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.71037C>A (TTN)	ENSP00000343764.6:p.Phe23679Leu
ENST00000342175.11:c.52122C>A (TTN)	ENSP00000340554.6:p.Phe17374Leu
ENST00000359218.10:c.51921C>A (TTN)	ENSP00000352154.5:p.Phe17307Leu
ENST00000342175.10:c.52122C>A (TTN)	ENSP00000340554.6:p.Phe17374Leu
ENST00000342992.10:c.71037C>A (TTN)	ENSP00000343764.6:p.Phe23679Leu
ENST00000359218.9:c.51921C>A (TTN)	ENSP00000352154.5:p.Phe17307Leu
ENST00000460472.6:c.51546C>A (TTN)	ENSP00000434586.1:p.Phe17182Leu
ENST00000589042.5:c.78741C>A (TTN) MANE Select	ENSP00000467141.1:p.Phe26247Leu
ENST00000591111.5:c.73818C>A (TTN)	ENSP00000465570.1:p.Phe24606Leu
ENST00000615779.4:c.73818C>A (TTN)	ENSP00000483597.1:p.Phe24606Leu
NM_001256850.1:c.73818C>A (TTN)	NP_001243779.1:p.Phe24606Leu
NM_001267550.2:c.78741C>A (TTN) MANE Select	NP_001254479.2:p.Phe26247Leu
NM_003319.4:c.51546C>A (TTN)	NP_003310.4:p.Phe17182Leu
NM_133378.4:c.71037C>A (TTN)	NP_596869.4:p.Phe23679Leu
NM_133432.3:c.51921C>A (TTN)	NP_597676.3:p.Phe17307Leu
NM_133437.4:c.52122C>A (TTN)	NP_597681.4:p.Phe17374Leu
NR_038271.1:n.447-3909G>T (TTN-AS1)
NR_038272.1:n.2044-15181G>T (TTN-AS1)
XM_011511729.1:c.77838C>A (TTN)	XP_011510031.1:p.Phe25946Leu
XM_011511730.1:c.51732C>A (TTN)	XP_011510032.1:p.Phe17244Leu
XM_011511731.1:c.51591C>A (TTN)	XP_011510033.1:p.Phe17197Leu
XM_017004819.1:c.77634C>A (TTN)	XP_016860308.1:p.Phe25878Leu
XM_017004820.1:c.73032C>A (TTN)	XP_016860309.1:p.Phe24344Leu
XM_017004821.1:c.73029C>A (TTN)	XP_016860310.1:p.Phe24343Leu
XM_017004822.1:c.70071C>A (TTN)	XP_016860311.1:p.Phe23357Leu
XM_017004823.1:c.51687C>A (TTN)	XP_016860312.1:p.Phe17229Leu
XM_024453094.1:c.73182C>A (TTN)	XP_024308862.1:p.Phe24394Leu
XM_024453095.1:c.73179C>A (TTN)	XP_024308863.1:p.Phe24393Leu
XM_024453096.1:c.72612C>A (TTN)	XP_024308864.1:p.Phe24204Leu
XM_024453097.1:c.69954C>A (TTN)	XP_024308865.1:p.Phe23318Leu
XM_024453098.1:c.69873C>A (TTN)	XP_024308866.1:p.Phe23291Leu
XM_024453099.1:c.51636C>A (TTN)	XP_024308867.1:p.Phe17212Leu
XM_024453100.1:c.41490C>A (TTN)	XP_024308868.1:p.Phe13830Leu