Canonical Allele Identifier: CA349417283

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179398791T>A (hg19) ; chr2:g.178534064T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178534064T>A , CM000664.2:g.178534064T>A	GRCh38
NC_000002.11:g.179398791T>A , CM000664.1:g.179398791T>A	GRCh37
NC_000002.10:g.179107037T>A	NCBI36
NG_011618.3:g.301739A>T , LRG_391:g.301739A>T
NG_051363.1:g.16238T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.94847A>T (TTN)	ENSP00000343764.6:p.Glu31616Val
ENST00000342175.11:c.75932A>T (TTN)	ENSP00000340554.6:p.Glu25311Val
ENST00000359218.10:c.75731A>T (TTN)	ENSP00000352154.5:p.Glu25244Val
ENST00000342175.10:c.75932A>T (TTN)	ENSP00000340554.6:p.Glu25311Val
ENST00000342992.10:c.94847A>T (TTN)	ENSP00000343764.6:p.Glu31616Val
ENST00000359218.9:c.75731A>T (TTN)	ENSP00000352154.5:p.Glu25244Val
ENST00000460472.6:c.75356A>T (TTN)	ENSP00000434586.1:p.Glu25119Val
ENST00000589042.5:c.102551A>T (TTN) MANE Select	ENSP00000467141.1:p.Glu34184Val
ENST00000591111.5:c.97628A>T (TTN)	ENSP00000465570.1:p.Glu32543Val
ENST00000615779.4:c.97628A>T (TTN)	ENSP00000483597.1:p.Glu32543Val
NM_001256850.1:c.97628A>T (TTN)	NP_001243779.1:p.Glu32543Val
NM_001267550.2:c.102551A>T (TTN) MANE Select	NP_001254479.2:p.Glu34184Val
NM_003319.4:c.75356A>T (TTN)	NP_003310.4:p.Glu25119Val
NM_133378.4:c.94847A>T (TTN)	NP_596869.4:p.Glu31616Val
NM_133432.3:c.75731A>T (TTN)	NP_597676.3:p.Glu25244Val
NM_133437.4:c.75932A>T (TTN)	NP_597681.4:p.Glu25311Val
NR_038271.1:n.446+10428T>A (TTN-AS1)
NR_038272.1:n.220-1668T>A (TTN-AS1)
XM_011511729.1:c.101648A>T (TTN)	XP_011510031.1:p.Glu33883Val
XM_011511730.1:c.75542A>T (TTN)	XP_011510032.1:p.Glu25181Val
XM_011511731.1:c.75401A>T (TTN)	XP_011510033.1:p.Glu25134Val
XM_017004819.1:c.101444A>T (TTN)	XP_016860308.1:p.Glu33815Val
XM_017004820.1:c.96842A>T (TTN)	XP_016860309.1:p.Glu32281Val
XM_017004821.1:c.96839A>T (TTN)	XP_016860310.1:p.Glu32280Val
XM_017004822.1:c.93881A>T (TTN)	XP_016860311.1:p.Glu31294Val
XM_017004823.1:c.75497A>T (TTN)	XP_016860312.1:p.Glu25166Val
XM_024453094.1:c.96992A>T (TTN)	XP_024308862.1:p.Glu32331Val
XM_024453095.1:c.96989A>T (TTN)	XP_024308863.1:p.Glu32330Val
XM_024453096.1:c.96422A>T (TTN)	XP_024308864.1:p.Glu32141Val
XM_024453097.1:c.93764A>T (TTN)	XP_024308865.1:p.Glu31255Val
XM_024453098.1:c.93683A>T (TTN)	XP_024308866.1:p.Glu31228Val
XM_024453099.1:c.75446A>T (TTN)	XP_024308867.1:p.Glu25149Val
XM_024453100.1:c.65300A>T (TTN)	XP_024308868.1:p.Glu21767Val