Canonical Allele Identifier: CA349496542

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457776T>C (hg19) ; chr2:g.178593049T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593049T>C , CM000664.2:g.178593049T>C	GRCh38
NC_000002.11:g.179457776T>C , CM000664.1:g.179457776T>C	GRCh37
NC_000002.10:g.179166022T>C	NCBI36
NG_011618.3:g.242754A>G , LRG_391:g.242754A>G
NG_051363.1:g.75223T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51366A>G (TTN)	ENSP00000343764.6:p.Ile17122Met
ENST00000342175.11:c.32451A>G (TTN)	ENSP00000340554.6:p.Ile10817Met
ENST00000359218.10:c.32250A>G (TTN)	ENSP00000352154.5:p.Ile10750Met
ENST00000342175.10:c.32451A>G (TTN)	ENSP00000340554.6:p.Ile10817Met
ENST00000342992.10:c.51366A>G (TTN)	ENSP00000343764.6:p.Ile17122Met
ENST00000359218.9:c.32250A>G (TTN)	ENSP00000352154.5:p.Ile10750Met
ENST00000460472.6:c.31875A>G (TTN)	ENSP00000434586.1:p.Ile10625Met
ENST00000589042.5:c.59070A>G (TTN) MANE Select	ENSP00000467141.1:p.Ile19690Met
ENST00000591111.5:c.54147A>G (TTN)	ENSP00000465570.1:p.Ile18049Met
ENST00000615779.4:c.54147A>G (TTN)	ENSP00000483597.1:p.Ile18049Met
NM_001256850.1:c.54147A>G (TTN)	NP_001243779.1:p.Ile18049Met
NM_001267550.2:c.59070A>G (TTN) MANE Select	NP_001254479.2:p.Ile19690Met
NM_003319.4:c.31875A>G (TTN)	NP_003310.4:p.Ile10625Met
NM_133378.4:c.51366A>G (TTN)	NP_596869.4:p.Ile17122Met
NM_133432.3:c.32250A>G (TTN)	NP_597676.3:p.Ile10750Met
NM_133437.4:c.32451A>G (TTN)	NP_597681.4:p.Ile10817Met
NR_038271.1:n.597-4547T>C (TTN-AS1)
NR_038272.1:n.3364+1735T>C (TTN-AS1)
XM_011511729.1:c.58167A>G (TTN)	XP_011510031.1:p.Ile19389Met
XM_011511730.1:c.32061A>G (TTN)	XP_011510032.1:p.Ile10687Met
XM_011511731.1:c.31920A>G (TTN)	XP_011510033.1:p.Ile10640Met
XM_017004819.1:c.57963A>G (TTN)	XP_016860308.1:p.Ile19321Met
XM_017004820.1:c.53361A>G (TTN)	XP_016860309.1:p.Ile17787Met
XM_017004821.1:c.53358A>G (TTN)	XP_016860310.1:p.Ile17786Met
XM_017004822.1:c.50400A>G (TTN)	XP_016860311.1:p.Ile16800Met
XM_017004823.1:c.32016A>G (TTN)	XP_016860312.1:p.Ile10672Met
XM_024453094.1:c.53511A>G (TTN)	XP_024308862.1:p.Ile17837Met
XM_024453095.1:c.53508A>G (TTN)	XP_024308863.1:p.Ile17836Met
XM_024453096.1:c.52941A>G (TTN)	XP_024308864.1:p.Ile17647Met
XM_024453097.1:c.50283A>G (TTN)	XP_024308865.1:p.Ile16761Met
XM_024453098.1:c.50202A>G (TTN)	XP_024308866.1:p.Ile16734Met
XM_024453099.1:c.31965A>G (TTN)	XP_024308867.1:p.Ile10655Met
XM_024453100.1:c.21819A>G (TTN)	XP_024308868.1:p.Ile7273Met