Canonical Allele Identifier: CA349495489

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM4087481 ; COSM4087482 ; COSM4087483 ; COSM4087484
• MyVariant Identifiers: chr2:g.179414486A>G (hg19) ; chr2:g.178549759A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549759A>G , CM000664.2:g.178549759A>G	GRCh38
NC_000002.11:g.179414486A>G , CM000664.1:g.179414486A>G	GRCh37
NC_000002.10:g.179122732A>G	NCBI36
NG_011618.3:g.286044T>C , LRG_391:g.286044T>C
NG_051363.1:g.31933A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.84259T>C (TTN)	ENSP00000343764.6:p.Tyr28087His
ENST00000342175.11:c.65344T>C (TTN)	ENSP00000340554.6:p.Tyr21782His
ENST00000359218.10:c.65143T>C (TTN)	ENSP00000352154.5:p.Tyr21715His
ENST00000342175.10:c.65344T>C (TTN)	ENSP00000340554.6:p.Tyr21782His
ENST00000342992.10:c.84259T>C (TTN)	ENSP00000343764.6:p.Tyr28087His
ENST00000359218.9:c.65143T>C (TTN)	ENSP00000352154.5:p.Tyr21715His
ENST00000460472.6:c.64768T>C (TTN)	ENSP00000434586.1:p.Tyr21590His
ENST00000589042.5:c.91963T>C (TTN) MANE Select	ENSP00000467141.1:p.Tyr30655His
ENST00000591111.5:c.87040T>C (TTN)	ENSP00000465570.1:p.Tyr29014His
ENST00000615779.4:c.87040T>C (TTN)	ENSP00000483597.1:p.Tyr29014His
NM_001256850.1:c.87040T>C (TTN)	NP_001243779.1:p.Tyr29014His
NM_001267550.2:c.91963T>C (TTN) MANE Select	NP_001254479.2:p.Tyr30655His
NM_003319.4:c.64768T>C (TTN)	NP_003310.4:p.Tyr21590His
NM_133378.4:c.84259T>C (TTN)	NP_596869.4:p.Tyr28087His
NM_133432.3:c.65143T>C (TTN)	NP_597676.3:p.Tyr21715His
NM_133437.4:c.65344T>C (TTN)	NP_597681.4:p.Tyr21782His
NR_038271.1:n.447-21541A>G (TTN-AS1)
NR_038272.1:n.2043+7398A>G (TTN-AS1)
XM_011511729.1:c.91060T>C (TTN)	XP_011510031.1:p.Tyr30354His
XM_011511730.1:c.64954T>C (TTN)	XP_011510032.1:p.Tyr21652His
XM_011511731.1:c.64813T>C (TTN)	XP_011510033.1:p.Tyr21605His
XM_017004819.1:c.90856T>C (TTN)	XP_016860308.1:p.Tyr30286His
XM_017004820.1:c.86254T>C (TTN)	XP_016860309.1:p.Tyr28752His
XM_017004821.1:c.86251T>C (TTN)	XP_016860310.1:p.Tyr28751His
XM_017004822.1:c.83293T>C (TTN)	XP_016860311.1:p.Tyr27765His
XM_017004823.1:c.64909T>C (TTN)	XP_016860312.1:p.Tyr21637His
XM_024453094.1:c.86404T>C (TTN)	XP_024308862.1:p.Tyr28802His
XM_024453095.1:c.86401T>C (TTN)	XP_024308863.1:p.Tyr28801His
XM_024453096.1:c.85834T>C (TTN)	XP_024308864.1:p.Tyr28612His
XM_024453097.1:c.83176T>C (TTN)	XP_024308865.1:p.Tyr27726His
XM_024453098.1:c.83095T>C (TTN)	XP_024308866.1:p.Tyr27699His
XM_024453099.1:c.64858T>C (TTN)	XP_024308867.1:p.Tyr21620His
XM_024453100.1:c.54712T>C (TTN)	XP_024308868.1:p.Tyr18238His