Canonical Allele Identifier: CA349406383

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395078T>A (hg19) ; chr2:g.178530351T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530351T>A , CM000664.2:g.178530351T>A	GRCh38
NC_000002.11:g.179395078T>A , CM000664.1:g.179395078T>A	GRCh37
NC_000002.10:g.179103324T>A	NCBI36
NG_011618.3:g.305452A>T , LRG_391:g.305452A>T
NG_051363.1:g.12525T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98560A>T (TTN)	ENSP00000343764.6:p.Ile32854Phe
ENST00000342175.11:c.79645A>T (TTN)	ENSP00000340554.6:p.Ile26549Phe
ENST00000359218.10:c.79444A>T (TTN)	ENSP00000352154.5:p.Ile26482Phe
ENST00000342175.10:c.79645A>T (TTN)	ENSP00000340554.6:p.Ile26549Phe
ENST00000342992.10:c.98560A>T (TTN)	ENSP00000343764.6:p.Ile32854Phe
ENST00000359218.9:c.79444A>T (TTN)	ENSP00000352154.5:p.Ile26482Phe
ENST00000460472.6:c.79069A>T (TTN)	ENSP00000434586.1:p.Ile26357Phe
ENST00000589042.5:c.106264A>T (TTN) MANE Select	ENSP00000467141.1:p.Ile35422Phe
ENST00000591111.5:c.101341A>T (TTN)	ENSP00000465570.1:p.Ile33781Phe
ENST00000615779.4:c.101341A>T (TTN)	ENSP00000483597.1:p.Ile33781Phe
NM_001256850.1:c.101341A>T (TTN)	NP_001243779.1:p.Ile33781Phe
NM_001267550.2:c.106264A>T (TTN) MANE Select	NP_001254479.2:p.Ile35422Phe
NM_003319.4:c.79069A>T (TTN)	NP_003310.4:p.Ile26357Phe
NM_133378.4:c.98560A>T (TTN)	NP_596869.4:p.Ile32854Phe
NM_133432.3:c.79444A>T (TTN)	NP_597676.3:p.Ile26482Phe
NM_133437.4:c.79645A>T (TTN)	NP_597681.4:p.Ile26549Phe
NR_038271.1:n.446+6715T>A (TTN-AS1)
NR_038272.1:n.220-5381T>A (TTN-AS1)
XM_011511729.1:c.105361A>T (TTN)	XP_011510031.1:p.Ile35121Phe
XM_011511730.1:c.79255A>T (TTN)	XP_011510032.1:p.Ile26419Phe
XM_011511731.1:c.79114A>T (TTN)	XP_011510033.1:p.Ile26372Phe
XM_017004819.1:c.105157A>T (TTN)	XP_016860308.1:p.Ile35053Phe
XM_017004820.1:c.100555A>T (TTN)	XP_016860309.1:p.Ile33519Phe
XM_017004821.1:c.100552A>T (TTN)	XP_016860310.1:p.Ile33518Phe
XM_017004822.1:c.97594A>T (TTN)	XP_016860311.1:p.Ile32532Phe
XM_017004823.1:c.79210A>T (TTN)	XP_016860312.1:p.Ile26404Phe
XM_024453094.1:c.100705A>T (TTN)	XP_024308862.1:p.Ile33569Phe
XM_024453095.1:c.100702A>T (TTN)	XP_024308863.1:p.Ile33568Phe
XM_024453096.1:c.100135A>T (TTN)	XP_024308864.1:p.Ile33379Phe
XM_024453097.1:c.97477A>T (TTN)	XP_024308865.1:p.Ile32493Phe
XM_024453098.1:c.97396A>T (TTN)	XP_024308866.1:p.Ile32466Phe
XM_024453099.1:c.79159A>T (TTN)	XP_024308867.1:p.Ile26387Phe
XM_024453100.1:c.69013A>T (TTN)	XP_024308868.1:p.Ile23005Phe