Canonical Allele Identifier: CA349541176

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1576287884
• MyVariant Identifiers: chr2:g.179466271C>G (hg19) ; chr2:g.178601544C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178601544C>G , CM000664.2:g.178601544C>G	GRCh38
NC_000002.11:g.179466271C>G , CM000664.1:g.179466271C>G	GRCh37
NC_000002.10:g.179174516C>G	NCBI36
NG_011618.3:g.234259G>C , LRG_391:g.234259G>C
NG_051363.1:g.83718C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.47749G>C (TTN)	ENSP00000343764.6:p.Asp15917His
ENST00000342175.11:c.28834G>C (TTN)	ENSP00000340554.6:p.Asp9612His
ENST00000359218.10:c.28633G>C (TTN)	ENSP00000352154.5:p.Asp9545His
ENST00000342175.10:c.28834G>C (TTN)	ENSP00000340554.6:p.Asp9612His
ENST00000342992.10:c.47749G>C (TTN)	ENSP00000343764.6:p.Asp15917His
ENST00000359218.9:c.28633G>C (TTN)	ENSP00000352154.5:p.Asp9545His
ENST00000460472.6:c.28258G>C (TTN)	ENSP00000434586.1:p.Asp9420His
ENST00000589042.5:c.55453G>C (TTN) MANE Select	ENSP00000467141.1:p.Asp18485His
ENST00000591111.5:c.50530G>C (TTN)	ENSP00000465570.1:p.Asp16844His
ENST00000615779.4:c.50530G>C (TTN)	ENSP00000483597.1:p.Asp16844His
NM_001256850.1:c.50530G>C (TTN)	NP_001243779.1:p.Asp16844His
NM_001267550.2:c.55453G>C (TTN) MANE Select	NP_001254479.2:p.Asp18485His
NM_003319.4:c.28258G>C (TTN)	NP_003310.4:p.Asp9420His
NM_133378.4:c.47749G>C (TTN)	NP_596869.4:p.Asp15917His
NM_133432.3:c.28633G>C (TTN)	NP_597676.3:p.Asp9545His
NM_133437.4:c.28834G>C (TTN)	NP_597681.4:p.Asp9612His
NR_038271.1:n.682+3863C>G (TTN-AS1)
NR_038272.1:n.3917+877C>G (TTN-AS1)
XM_011511729.1:c.54550G>C (TTN)	XP_011510031.1:p.Asp18184His
XM_011511730.1:c.28444G>C (TTN)	XP_011510032.1:p.Asp9482His
XM_011511731.1:c.28303G>C (TTN)	XP_011510033.1:p.Asp9435His
XM_017004819.1:c.54346G>C (TTN)	XP_016860308.1:p.Asp18116His
XM_017004820.1:c.49744G>C (TTN)	XP_016860309.1:p.Asp16582His
XM_017004821.1:c.49741G>C (TTN)	XP_016860310.1:p.Asp16581His
XM_017004822.1:c.46783G>C (TTN)	XP_016860311.1:p.Asp15595His
XM_017004823.1:c.28399G>C (TTN)	XP_016860312.1:p.Asp9467His
XM_024453094.1:c.49894G>C (TTN)	XP_024308862.1:p.Asp16632His
XM_024453095.1:c.49891G>C (TTN)	XP_024308863.1:p.Asp16631His
XM_024453096.1:c.49324G>C (TTN)	XP_024308864.1:p.Asp16442His
XM_024453097.1:c.46666G>C (TTN)	XP_024308865.1:p.Asp15556His
XM_024453098.1:c.46585G>C (TTN)	XP_024308866.1:p.Asp15529His
XM_024453099.1:c.28348G>C (TTN)	XP_024308867.1:p.Asp9450His
XM_024453100.1:c.18202G>C (TTN)	XP_024308868.1:p.Asp6068His