Canonical Allele Identifier: CA349407315

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM98842
• MyVariant Identifiers: chr2:g.179395368T>G (hg19) ; chr2:g.178530641T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530641T>G , CM000664.2:g.178530641T>G	GRCh38
NC_000002.11:g.179395368T>G , CM000664.1:g.179395368T>G	GRCh37
NC_000002.10:g.179103614T>G	NCBI36
NG_011618.3:g.305162A>C , LRG_391:g.305162A>C
NG_051363.1:g.12815T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98270A>C (TTN)	ENSP00000343764.6:p.Lys32757Thr
ENST00000342175.11:c.79355A>C (TTN)	ENSP00000340554.6:p.Lys26452Thr
ENST00000359218.10:c.79154A>C (TTN)	ENSP00000352154.5:p.Lys26385Thr
ENST00000342175.10:c.79355A>C (TTN)	ENSP00000340554.6:p.Lys26452Thr
ENST00000342992.10:c.98270A>C (TTN)	ENSP00000343764.6:p.Lys32757Thr
ENST00000359218.9:c.79154A>C (TTN)	ENSP00000352154.5:p.Lys26385Thr
ENST00000460472.6:c.78779A>C (TTN)	ENSP00000434586.1:p.Lys26260Thr
ENST00000589042.5:c.105974A>C (TTN) MANE Select	ENSP00000467141.1:p.Lys35325Thr
ENST00000591111.5:c.101051A>C (TTN)	ENSP00000465570.1:p.Lys33684Thr
ENST00000615779.4:c.101051A>C (TTN)	ENSP00000483597.1:p.Lys33684Thr
NM_001256850.1:c.101051A>C (TTN)	NP_001243779.1:p.Lys33684Thr
NM_001267550.2:c.105974A>C (TTN) MANE Select	NP_001254479.2:p.Lys35325Thr
NM_003319.4:c.78779A>C (TTN)	NP_003310.4:p.Lys26260Thr
NM_133378.4:c.98270A>C (TTN)	NP_596869.4:p.Lys32757Thr
NM_133432.3:c.79154A>C (TTN)	NP_597676.3:p.Lys26385Thr
NM_133437.4:c.79355A>C (TTN)	NP_597681.4:p.Lys26452Thr
NR_038271.1:n.446+7005T>G (TTN-AS1)
NR_038272.1:n.220-5091T>G (TTN-AS1)
XM_011511729.1:c.105071A>C (TTN)	XP_011510031.1:p.Lys35024Thr
XM_011511730.1:c.78965A>C (TTN)	XP_011510032.1:p.Lys26322Thr
XM_011511731.1:c.78824A>C (TTN)	XP_011510033.1:p.Lys26275Thr
XM_017004819.1:c.104867A>C (TTN)	XP_016860308.1:p.Lys34956Thr
XM_017004820.1:c.100265A>C (TTN)	XP_016860309.1:p.Lys33422Thr
XM_017004821.1:c.100262A>C (TTN)	XP_016860310.1:p.Lys33421Thr
XM_017004822.1:c.97304A>C (TTN)	XP_016860311.1:p.Lys32435Thr
XM_017004823.1:c.78920A>C (TTN)	XP_016860312.1:p.Lys26307Thr
XM_024453094.1:c.100415A>C (TTN)	XP_024308862.1:p.Lys33472Thr
XM_024453095.1:c.100412A>C (TTN)	XP_024308863.1:p.Lys33471Thr
XM_024453096.1:c.99845A>C (TTN)	XP_024308864.1:p.Lys33282Thr
XM_024453097.1:c.97187A>C (TTN)	XP_024308865.1:p.Lys32396Thr
XM_024453098.1:c.97106A>C (TTN)	XP_024308866.1:p.Lys32369Thr
XM_024453099.1:c.78869A>C (TTN)	XP_024308867.1:p.Lys26290Thr
XM_024453100.1:c.68723A>C (TTN)	XP_024308868.1:p.Lys22908Thr