Canonical Allele Identifier: CA349504067

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179416566G>A (hg19) ; chr2:g.178551839G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551839G>A , CM000664.2:g.178551839G>A	GRCh38
NC_000002.11:g.179416566G>A , CM000664.1:g.179416566G>A	GRCh37
NC_000002.10:g.179124812G>A	NCBI36
NG_011618.3:g.283964C>T , LRG_391:g.283964C>T
NG_051363.1:g.34013G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.83357C>T (TTN)	ENSP00000343764.6:p.Ser27786Leu
ENST00000342175.11:c.64442C>T (TTN)	ENSP00000340554.6:p.Ser21481Leu
ENST00000359218.10:c.64241C>T (TTN)	ENSP00000352154.5:p.Ser21414Leu
ENST00000342175.10:c.64442C>T (TTN)	ENSP00000340554.6:p.Ser21481Leu
ENST00000342992.10:c.83357C>T (TTN)	ENSP00000343764.6:p.Ser27786Leu
ENST00000359218.9:c.64241C>T (TTN)	ENSP00000352154.5:p.Ser21414Leu
ENST00000460472.6:c.63866C>T (TTN)	ENSP00000434586.1:p.Ser21289Leu
ENST00000589042.5:c.91061C>T (TTN) MANE Select	ENSP00000467141.1:p.Ser30354Leu
ENST00000591111.5:c.86138C>T (TTN)	ENSP00000465570.1:p.Ser28713Leu
ENST00000615779.4:c.86138C>T (TTN)	ENSP00000483597.1:p.Ser28713Leu
NM_001256850.1:c.86138C>T (TTN)	NP_001243779.1:p.Ser28713Leu
NM_001267550.2:c.91061C>T (TTN) MANE Select	NP_001254479.2:p.Ser30354Leu
NM_003319.4:c.63866C>T (TTN)	NP_003310.4:p.Ser21289Leu
NM_133378.4:c.83357C>T (TTN)	NP_596869.4:p.Ser27786Leu
NM_133432.3:c.64241C>T (TTN)	NP_597676.3:p.Ser21414Leu
NM_133437.4:c.64442C>T (TTN)	NP_597681.4:p.Ser21481Leu
NR_038271.1:n.447-19461G>A (TTN-AS1)
NR_038272.1:n.2043+9478G>A (TTN-AS1)
XM_011511729.1:c.90158C>T (TTN)	XP_011510031.1:p.Ser30053Leu
XM_011511730.1:c.64052C>T (TTN)	XP_011510032.1:p.Ser21351Leu
XM_011511731.1:c.63911C>T (TTN)	XP_011510033.1:p.Ser21304Leu
XM_017004819.1:c.89954C>T (TTN)	XP_016860308.1:p.Ser29985Leu
XM_017004820.1:c.85352C>T (TTN)	XP_016860309.1:p.Ser28451Leu
XM_017004821.1:c.85349C>T (TTN)	XP_016860310.1:p.Ser28450Leu
XM_017004822.1:c.82391C>T (TTN)	XP_016860311.1:p.Ser27464Leu
XM_017004823.1:c.64007C>T (TTN)	XP_016860312.1:p.Ser21336Leu
XM_024453094.1:c.85502C>T (TTN)	XP_024308862.1:p.Ser28501Leu
XM_024453095.1:c.85499C>T (TTN)	XP_024308863.1:p.Ser28500Leu
XM_024453096.1:c.84932C>T (TTN)	XP_024308864.1:p.Ser28311Leu
XM_024453097.1:c.82274C>T (TTN)	XP_024308865.1:p.Ser27425Leu
XM_024453098.1:c.82193C>T (TTN)	XP_024308866.1:p.Ser27398Leu
XM_024453099.1:c.63956C>T (TTN)	XP_024308867.1:p.Ser21319Leu
XM_024453100.1:c.53810C>T (TTN)	XP_024308868.1:p.Ser17937Leu