Canonical Allele Identifier: CA349456268

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179409063T>G (hg19) ; chr2:g.178544336T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544336T>G , CM000664.2:g.178544336T>G	GRCh38
NC_000002.11:g.179409063T>G , CM000664.1:g.179409063T>G	GRCh37
NC_000002.10:g.179117309T>G	NCBI36
NG_011618.3:g.291467A>C , LRG_391:g.291467A>C
NG_051363.1:g.26510T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88189A>C (TTN)	ENSP00000343764.6:p.Ile29397Leu
ENST00000342175.11:c.69274A>C (TTN)	ENSP00000340554.6:p.Ile23092Leu
ENST00000359218.10:c.69073A>C (TTN)	ENSP00000352154.5:p.Ile23025Leu
ENST00000342175.10:c.69274A>C (TTN)	ENSP00000340554.6:p.Ile23092Leu
ENST00000342992.10:c.88189A>C (TTN)	ENSP00000343764.6:p.Ile29397Leu
ENST00000359218.9:c.69073A>C (TTN)	ENSP00000352154.5:p.Ile23025Leu
ENST00000460472.6:c.68698A>C (TTN)	ENSP00000434586.1:p.Ile22900Leu
ENST00000589042.5:c.95893A>C (TTN) MANE Select	ENSP00000467141.1:p.Ile31965Leu
ENST00000591111.5:c.90970A>C (TTN)	ENSP00000465570.1:p.Ile30324Leu
ENST00000615779.4:c.90970A>C (TTN)	ENSP00000483597.1:p.Ile30324Leu
NM_001256850.1:c.90970A>C (TTN)	NP_001243779.1:p.Ile30324Leu
NM_001267550.2:c.95893A>C (TTN) MANE Select	NP_001254479.2:p.Ile31965Leu
NM_003319.4:c.68698A>C (TTN)	NP_003310.4:p.Ile22900Leu
NM_133378.4:c.88189A>C (TTN)	NP_596869.4:p.Ile29397Leu
NM_133432.3:c.69073A>C (TTN)	NP_597676.3:p.Ile23025Leu
NM_133437.4:c.69274A>C (TTN)	NP_597681.4:p.Ile23092Leu
NR_038271.1:n.446+20700T>G (TTN-AS1)
NR_038272.1:n.2043+1975T>G (TTN-AS1)
XM_011511729.1:c.94990A>C (TTN)	XP_011510031.1:p.Ile31664Leu
XM_011511730.1:c.68884A>C (TTN)	XP_011510032.1:p.Ile22962Leu
XM_011511731.1:c.68743A>C (TTN)	XP_011510033.1:p.Ile22915Leu
XM_017004819.1:c.94786A>C (TTN)	XP_016860308.1:p.Ile31596Leu
XM_017004820.1:c.90184A>C (TTN)	XP_016860309.1:p.Ile30062Leu
XM_017004821.1:c.90181A>C (TTN)	XP_016860310.1:p.Ile30061Leu
XM_017004822.1:c.87223A>C (TTN)	XP_016860311.1:p.Ile29075Leu
XM_017004823.1:c.68839A>C (TTN)	XP_016860312.1:p.Ile22947Leu
XM_024453094.1:c.90334A>C (TTN)	XP_024308862.1:p.Ile30112Leu
XM_024453095.1:c.90331A>C (TTN)	XP_024308863.1:p.Ile30111Leu
XM_024453096.1:c.89764A>C (TTN)	XP_024308864.1:p.Ile29922Leu
XM_024453097.1:c.87106A>C (TTN)	XP_024308865.1:p.Ile29036Leu
XM_024453098.1:c.87025A>C (TTN)	XP_024308866.1:p.Ile29009Leu
XM_024453099.1:c.68788A>C (TTN)	XP_024308867.1:p.Ile22930Leu
XM_024453100.1:c.58642A>C (TTN)	XP_024308868.1:p.Ile19548Leu