Canonical Allele Identifier: CA349406955

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395205A>T (hg19) ; chr2:g.178530478A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530478A>T , CM000664.2:g.178530478A>T	GRCh38
NC_000002.11:g.179395205A>T , CM000664.1:g.179395205A>T	GRCh37
NC_000002.10:g.179103451A>T	NCBI36
NG_011618.3:g.305325T>A , LRG_391:g.305325T>A
NG_051363.1:g.12652A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98433T>A (TTN)	ENSP00000343764.6:p.Phe32811Leu
ENST00000342175.11:c.79518T>A (TTN)	ENSP00000340554.6:p.Phe26506Leu
ENST00000359218.10:c.79317T>A (TTN)	ENSP00000352154.5:p.Phe26439Leu
ENST00000342175.10:c.79518T>A (TTN)	ENSP00000340554.6:p.Phe26506Leu
ENST00000342992.10:c.98433T>A (TTN)	ENSP00000343764.6:p.Phe32811Leu
ENST00000359218.9:c.79317T>A (TTN)	ENSP00000352154.5:p.Phe26439Leu
ENST00000460472.6:c.78942T>A (TTN)	ENSP00000434586.1:p.Phe26314Leu
ENST00000589042.5:c.106137T>A (TTN) MANE Select	ENSP00000467141.1:p.Phe35379Leu
ENST00000591111.5:c.101214T>A (TTN)	ENSP00000465570.1:p.Phe33738Leu
ENST00000615779.4:c.101214T>A (TTN)	ENSP00000483597.1:p.Phe33738Leu
NM_001256850.1:c.101214T>A (TTN)	NP_001243779.1:p.Phe33738Leu
NM_001267550.2:c.106137T>A (TTN) MANE Select	NP_001254479.2:p.Phe35379Leu
NM_003319.4:c.78942T>A (TTN)	NP_003310.4:p.Phe26314Leu
NM_133378.4:c.98433T>A (TTN)	NP_596869.4:p.Phe32811Leu
NM_133432.3:c.79317T>A (TTN)	NP_597676.3:p.Phe26439Leu
NM_133437.4:c.79518T>A (TTN)	NP_597681.4:p.Phe26506Leu
NR_038271.1:n.446+6842A>T (TTN-AS1)
NR_038272.1:n.220-5254A>T (TTN-AS1)
XM_011511729.1:c.105234T>A (TTN)	XP_011510031.1:p.Phe35078Leu
XM_011511730.1:c.79128T>A (TTN)	XP_011510032.1:p.Phe26376Leu
XM_011511731.1:c.78987T>A (TTN)	XP_011510033.1:p.Phe26329Leu
XM_017004819.1:c.105030T>A (TTN)	XP_016860308.1:p.Phe35010Leu
XM_017004820.1:c.100428T>A (TTN)	XP_016860309.1:p.Phe33476Leu
XM_017004821.1:c.100425T>A (TTN)	XP_016860310.1:p.Phe33475Leu
XM_017004822.1:c.97467T>A (TTN)	XP_016860311.1:p.Phe32489Leu
XM_017004823.1:c.79083T>A (TTN)	XP_016860312.1:p.Phe26361Leu
XM_024453094.1:c.100578T>A (TTN)	XP_024308862.1:p.Phe33526Leu
XM_024453095.1:c.100575T>A (TTN)	XP_024308863.1:p.Phe33525Leu
XM_024453096.1:c.100008T>A (TTN)	XP_024308864.1:p.Phe33336Leu
XM_024453097.1:c.97350T>A (TTN)	XP_024308865.1:p.Phe32450Leu
XM_024453098.1:c.97269T>A (TTN)	XP_024308866.1:p.Phe32423Leu
XM_024453099.1:c.79032T>A (TTN)	XP_024308867.1:p.Phe26344Leu
XM_024453100.1:c.68886T>A (TTN)	XP_024308868.1:p.Phe22962Leu