Canonical Allele Identifier: CA349406959

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395207A>T (hg19) ; chr2:g.178530480A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530480A>T , CM000664.2:g.178530480A>T	GRCh38
NC_000002.11:g.179395207A>T , CM000664.1:g.179395207A>T	GRCh37
NC_000002.10:g.179103453A>T	NCBI36
NG_011618.3:g.305323T>A , LRG_391:g.305323T>A
NG_051363.1:g.12654A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98431T>A (TTN)	ENSP00000343764.6:p.Phe32811Ile
ENST00000342175.11:c.79516T>A (TTN)	ENSP00000340554.6:p.Phe26506Ile
ENST00000359218.10:c.79315T>A (TTN)	ENSP00000352154.5:p.Phe26439Ile
ENST00000342175.10:c.79516T>A (TTN)	ENSP00000340554.6:p.Phe26506Ile
ENST00000342992.10:c.98431T>A (TTN)	ENSP00000343764.6:p.Phe32811Ile
ENST00000359218.9:c.79315T>A (TTN)	ENSP00000352154.5:p.Phe26439Ile
ENST00000460472.6:c.78940T>A (TTN)	ENSP00000434586.1:p.Phe26314Ile
ENST00000589042.5:c.106135T>A (TTN) MANE Select	ENSP00000467141.1:p.Phe35379Ile
ENST00000591111.5:c.101212T>A (TTN)	ENSP00000465570.1:p.Phe33738Ile
ENST00000615779.4:c.101212T>A (TTN)	ENSP00000483597.1:p.Phe33738Ile
NM_001256850.1:c.101212T>A (TTN)	NP_001243779.1:p.Phe33738Ile
NM_001267550.2:c.106135T>A (TTN) MANE Select	NP_001254479.2:p.Phe35379Ile
NM_003319.4:c.78940T>A (TTN)	NP_003310.4:p.Phe26314Ile
NM_133378.4:c.98431T>A (TTN)	NP_596869.4:p.Phe32811Ile
NM_133432.3:c.79315T>A (TTN)	NP_597676.3:p.Phe26439Ile
NM_133437.4:c.79516T>A (TTN)	NP_597681.4:p.Phe26506Ile
NR_038271.1:n.446+6844A>T (TTN-AS1)
NR_038272.1:n.220-5252A>T (TTN-AS1)
XM_011511729.1:c.105232T>A (TTN)	XP_011510031.1:p.Phe35078Ile
XM_011511730.1:c.79126T>A (TTN)	XP_011510032.1:p.Phe26376Ile
XM_011511731.1:c.78985T>A (TTN)	XP_011510033.1:p.Phe26329Ile
XM_017004819.1:c.105028T>A (TTN)	XP_016860308.1:p.Phe35010Ile
XM_017004820.1:c.100426T>A (TTN)	XP_016860309.1:p.Phe33476Ile
XM_017004821.1:c.100423T>A (TTN)	XP_016860310.1:p.Phe33475Ile
XM_017004822.1:c.97465T>A (TTN)	XP_016860311.1:p.Phe32489Ile
XM_017004823.1:c.79081T>A (TTN)	XP_016860312.1:p.Phe26361Ile
XM_024453094.1:c.100576T>A (TTN)	XP_024308862.1:p.Phe33526Ile
XM_024453095.1:c.100573T>A (TTN)	XP_024308863.1:p.Phe33525Ile
XM_024453096.1:c.100006T>A (TTN)	XP_024308864.1:p.Phe33336Ile
XM_024453097.1:c.97348T>A (TTN)	XP_024308865.1:p.Phe32450Ile
XM_024453098.1:c.97267T>A (TTN)	XP_024308866.1:p.Phe32423Ile
XM_024453099.1:c.79030T>A (TTN)	XP_024308867.1:p.Phe26344Ile
XM_024453100.1:c.68884T>A (TTN)	XP_024308868.1:p.Phe22962Ile