Canonical Allele Identifier: CA349411677

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179396881T>G (hg19) ; chr2:g.178532154T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532154T>G , CM000664.2:g.178532154T>G	GRCh38
NC_000002.11:g.179396881T>G , CM000664.1:g.179396881T>G	GRCh37
NC_000002.10:g.179105127T>G	NCBI36
NG_011618.3:g.303649A>C , LRG_391:g.303649A>C
NG_051363.1:g.14328T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96757A>C (TTN)	ENSP00000343764.6:p.Ile32253Leu
ENST00000342175.11:c.77842A>C (TTN)	ENSP00000340554.6:p.Ile25948Leu
ENST00000359218.10:c.77641A>C (TTN)	ENSP00000352154.5:p.Ile25881Leu
ENST00000342175.10:c.77842A>C (TTN)	ENSP00000340554.6:p.Ile25948Leu
ENST00000342992.10:c.96757A>C (TTN)	ENSP00000343764.6:p.Ile32253Leu
ENST00000359218.9:c.77641A>C (TTN)	ENSP00000352154.5:p.Ile25881Leu
ENST00000460472.6:c.77266A>C (TTN)	ENSP00000434586.1:p.Ile25756Leu
ENST00000589042.5:c.104461A>C (TTN) MANE Select	ENSP00000467141.1:p.Ile34821Leu
ENST00000591111.5:c.99538A>C (TTN)	ENSP00000465570.1:p.Ile33180Leu
ENST00000615779.4:c.99538A>C (TTN)	ENSP00000483597.1:p.Ile33180Leu
NM_001256850.1:c.99538A>C (TTN)	NP_001243779.1:p.Ile33180Leu
NM_001267550.2:c.104461A>C (TTN) MANE Select	NP_001254479.2:p.Ile34821Leu
NM_003319.4:c.77266A>C (TTN)	NP_003310.4:p.Ile25756Leu
NM_133378.4:c.96757A>C (TTN)	NP_596869.4:p.Ile32253Leu
NM_133432.3:c.77641A>C (TTN)	NP_597676.3:p.Ile25881Leu
NM_133437.4:c.77842A>C (TTN)	NP_597681.4:p.Ile25948Leu
NR_038271.1:n.446+8518T>G (TTN-AS1)
NR_038272.1:n.220-3578T>G (TTN-AS1)
XM_011511729.1:c.103558A>C (TTN)	XP_011510031.1:p.Ile34520Leu
XM_011511730.1:c.77452A>C (TTN)	XP_011510032.1:p.Ile25818Leu
XM_011511731.1:c.77311A>C (TTN)	XP_011510033.1:p.Ile25771Leu
XM_017004819.1:c.103354A>C (TTN)	XP_016860308.1:p.Ile34452Leu
XM_017004820.1:c.98752A>C (TTN)	XP_016860309.1:p.Ile32918Leu
XM_017004821.1:c.98749A>C (TTN)	XP_016860310.1:p.Ile32917Leu
XM_017004822.1:c.95791A>C (TTN)	XP_016860311.1:p.Ile31931Leu
XM_017004823.1:c.77407A>C (TTN)	XP_016860312.1:p.Ile25803Leu
XM_024453094.1:c.98902A>C (TTN)	XP_024308862.1:p.Ile32968Leu
XM_024453095.1:c.98899A>C (TTN)	XP_024308863.1:p.Ile32967Leu
XM_024453096.1:c.98332A>C (TTN)	XP_024308864.1:p.Ile32778Leu
XM_024453097.1:c.95674A>C (TTN)	XP_024308865.1:p.Ile31892Leu
XM_024453098.1:c.95593A>C (TTN)	XP_024308866.1:p.Ile31865Leu
XM_024453099.1:c.77356A>C (TTN)	XP_024308867.1:p.Ile25786Leu
XM_024453100.1:c.67210A>C (TTN)	XP_024308868.1:p.Ile22404Leu