Canonical Allele Identifier: CA349434880

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM6297281 ; COSM6297282 ; COSM6297283 ; COSM6297284
• MyVariant Identifiers: chr2:g.179404798G>T (hg19) ; chr2:g.178540071G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178540071G>T , CM000664.2:g.178540071G>T	GRCh38
NC_000002.11:g.179404798G>T , CM000664.1:g.179404798G>T	GRCh37
NC_000002.10:g.179113044G>T	NCBI36
NG_011618.3:g.295732C>A , LRG_391:g.295732C>A
NG_051363.1:g.22245G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.90391C>A (TTN)	ENSP00000343764.6:p.Leu30131Ile
ENST00000342175.11:c.71476C>A (TTN)	ENSP00000340554.6:p.Leu23826Ile
ENST00000359218.10:c.71275C>A (TTN)	ENSP00000352154.5:p.Leu23759Ile
ENST00000342175.10:c.71476C>A (TTN)	ENSP00000340554.6:p.Leu23826Ile
ENST00000342992.10:c.90391C>A (TTN)	ENSP00000343764.6:p.Leu30131Ile
ENST00000359218.9:c.71275C>A (TTN)	ENSP00000352154.5:p.Leu23759Ile
ENST00000460472.6:c.70900C>A (TTN)	ENSP00000434586.1:p.Leu23634Ile
ENST00000589042.5:c.98095C>A (TTN) MANE Select	ENSP00000467141.1:p.Leu32699Ile
ENST00000591111.5:c.93172C>A (TTN)	ENSP00000465570.1:p.Leu31058Ile
ENST00000615779.4:c.93172C>A (TTN)	ENSP00000483597.1:p.Leu31058Ile
NM_001256850.1:c.93172C>A (TTN)	NP_001243779.1:p.Leu31058Ile
NM_001267550.2:c.98095C>A (TTN) MANE Select	NP_001254479.2:p.Leu32699Ile
NM_003319.4:c.70900C>A (TTN)	NP_003310.4:p.Leu23634Ile
NM_133378.4:c.90391C>A (TTN)	NP_596869.4:p.Leu30131Ile
NM_133432.3:c.71275C>A (TTN)	NP_597676.3:p.Leu23759Ile
NM_133437.4:c.71476C>A (TTN)	NP_597681.4:p.Leu23826Ile
NR_038271.1:n.446+16435G>T (TTN-AS1)
NR_038272.1:n.1841-36G>T (TTN-AS1)
XM_011511729.1:c.97192C>A (TTN)	XP_011510031.1:p.Leu32398Ile
XM_011511730.1:c.71086C>A (TTN)	XP_011510032.1:p.Leu23696Ile
XM_011511731.1:c.70945C>A (TTN)	XP_011510033.1:p.Leu23649Ile
XM_017004819.1:c.96988C>A (TTN)	XP_016860308.1:p.Leu32330Ile
XM_017004820.1:c.92386C>A (TTN)	XP_016860309.1:p.Leu30796Ile
XM_017004821.1:c.92383C>A (TTN)	XP_016860310.1:p.Leu30795Ile
XM_017004822.1:c.89425C>A (TTN)	XP_016860311.1:p.Leu29809Ile
XM_017004823.1:c.71041C>A (TTN)	XP_016860312.1:p.Leu23681Ile
XM_024453094.1:c.92536C>A (TTN)	XP_024308862.1:p.Leu30846Ile
XM_024453095.1:c.92533C>A (TTN)	XP_024308863.1:p.Leu30845Ile
XM_024453096.1:c.91966C>A (TTN)	XP_024308864.1:p.Leu30656Ile
XM_024453097.1:c.89308C>A (TTN)	XP_024308865.1:p.Leu29770Ile
XM_024453098.1:c.89227C>A (TTN)	XP_024308866.1:p.Leu29743Ile
XM_024453099.1:c.70990C>A (TTN)	XP_024308867.1:p.Leu23664Ile
XM_024453100.1:c.60844C>A (TTN)	XP_024308868.1:p.Leu20282Ile