Canonical Allele Identifier: CA349417046

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM350420 ; COSM350421 ; COSM350422
• MyVariant Identifiers: chr2:g.179398686C>A (hg19) ; chr2:g.178533959C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178533959C>A , CM000664.2:g.178533959C>A	GRCh38
NC_000002.11:g.179398686C>A , CM000664.1:g.179398686C>A	GRCh37
NC_000002.10:g.179106932C>A	NCBI36
NG_011618.3:g.301844G>T , LRG_391:g.301844G>T
NG_051363.1:g.16133C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.94952G>T (TTN)	ENSP00000343764.6:p.Ser31651Ile
ENST00000342175.11:c.76037G>T (TTN)	ENSP00000340554.6:p.Ser25346Ile
ENST00000359218.10:c.75836G>T (TTN)	ENSP00000352154.5:p.Ser25279Ile
ENST00000342175.10:c.76037G>T (TTN)	ENSP00000340554.6:p.Ser25346Ile
ENST00000342992.10:c.94952G>T (TTN)	ENSP00000343764.6:p.Ser31651Ile
ENST00000359218.9:c.75836G>T (TTN)	ENSP00000352154.5:p.Ser25279Ile
ENST00000460472.6:c.75461G>T (TTN)	ENSP00000434586.1:p.Ser25154Ile
ENST00000589042.5:c.102656G>T (TTN) MANE Select	ENSP00000467141.1:p.Ser34219Ile
ENST00000591111.5:c.97733G>T (TTN)	ENSP00000465570.1:p.Ser32578Ile
ENST00000615779.4:c.97733G>T (TTN)	ENSP00000483597.1:p.Ser32578Ile
NM_001256850.1:c.97733G>T (TTN)	NP_001243779.1:p.Ser32578Ile
NM_001267550.2:c.102656G>T (TTN) MANE Select	NP_001254479.2:p.Ser34219Ile
NM_003319.4:c.75461G>T (TTN)	NP_003310.4:p.Ser25154Ile
NM_133378.4:c.94952G>T (TTN)	NP_596869.4:p.Ser31651Ile
NM_133432.3:c.75836G>T (TTN)	NP_597676.3:p.Ser25279Ile
NM_133437.4:c.76037G>T (TTN)	NP_597681.4:p.Ser25346Ile
NR_038271.1:n.446+10323C>A (TTN-AS1)
NR_038272.1:n.220-1773C>A (TTN-AS1)
XM_011511729.1:c.101753G>T (TTN)	XP_011510031.1:p.Ser33918Ile
XM_011511730.1:c.75647G>T (TTN)	XP_011510032.1:p.Ser25216Ile
XM_011511731.1:c.75506G>T (TTN)	XP_011510033.1:p.Ser25169Ile
XM_017004819.1:c.101549G>T (TTN)	XP_016860308.1:p.Ser33850Ile
XM_017004820.1:c.96947G>T (TTN)	XP_016860309.1:p.Ser32316Ile
XM_017004821.1:c.96944G>T (TTN)	XP_016860310.1:p.Ser32315Ile
XM_017004822.1:c.93986G>T (TTN)	XP_016860311.1:p.Ser31329Ile
XM_017004823.1:c.75602G>T (TTN)	XP_016860312.1:p.Ser25201Ile
XM_024453094.1:c.97097G>T (TTN)	XP_024308862.1:p.Ser32366Ile
XM_024453095.1:c.97094G>T (TTN)	XP_024308863.1:p.Ser32365Ile
XM_024453096.1:c.96527G>T (TTN)	XP_024308864.1:p.Ser32176Ile
XM_024453097.1:c.93869G>T (TTN)	XP_024308865.1:p.Ser31290Ile
XM_024453098.1:c.93788G>T (TTN)	XP_024308866.1:p.Ser31263Ile
XM_024453099.1:c.75551G>T (TTN)	XP_024308867.1:p.Ser25184Ile
XM_024453100.1:c.65405G>T (TTN)	XP_024308868.1:p.Ser21802Ile