Canonical Allele Identifier: CA60953278

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs867389923
• MyVariant Identifiers: chr2:g.179395036C>A (hg19) ; chr2:g.178530309C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530309C>A , CM000664.2:g.178530309C>A	GRCh38
NC_000002.11:g.179395036C>A , CM000664.1:g.179395036C>A	GRCh37
NC_000002.10:g.179103282C>A	NCBI36
NG_011618.3:g.305494G>T , LRG_391:g.305494G>T
NG_051363.1:g.12483C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.98602G>T (TTN)	ENSP00000343764.6:p.Val32868Phe
ENST00000342175.11:c.79687G>T (TTN)	ENSP00000340554.6:p.Val26563Phe
ENST00000359218.10:c.79486G>T (TTN)	ENSP00000352154.5:p.Val26496Phe
ENST00000342175.10:c.79687G>T (TTN)	ENSP00000340554.6:p.Val26563Phe
ENST00000342992.10:c.98602G>T (TTN)	ENSP00000343764.6:p.Val32868Phe
ENST00000359218.9:c.79486G>T (TTN)	ENSP00000352154.5:p.Val26496Phe
ENST00000460472.6:c.79111G>T (TTN)	ENSP00000434586.1:p.Val26371Phe
ENST00000589042.5:c.106306G>T (TTN) MANE Select	ENSP00000467141.1:p.Val35436Phe
ENST00000591111.5:c.101383G>T (TTN)	ENSP00000465570.1:p.Val33795Phe
ENST00000615779.4:c.101383G>T (TTN)	ENSP00000483597.1:p.Val33795Phe
NM_001256850.1:c.101383G>T (TTN)	NP_001243779.1:p.Val33795Phe
NM_001267550.2:c.106306G>T (TTN) MANE Select	NP_001254479.2:p.Val35436Phe
NM_003319.4:c.79111G>T (TTN)	NP_003310.4:p.Val26371Phe
NM_133378.4:c.98602G>T (TTN)	NP_596869.4:p.Val32868Phe
NM_133432.3:c.79486G>T (TTN)	NP_597676.3:p.Val26496Phe
NM_133437.4:c.79687G>T (TTN)	NP_597681.4:p.Val26563Phe
NR_038271.1:n.446+6673C>A (TTN-AS1)
NR_038272.1:n.220-5423C>A (TTN-AS1)
XM_011511729.1:c.105403G>T (TTN)	XP_011510031.1:p.Val35135Phe
XM_011511730.1:c.79297G>T (TTN)	XP_011510032.1:p.Val26433Phe
XM_011511731.1:c.79156G>T (TTN)	XP_011510033.1:p.Val26386Phe
XM_017004819.1:c.105199G>T (TTN)	XP_016860308.1:p.Val35067Phe
XM_017004820.1:c.100597G>T (TTN)	XP_016860309.1:p.Val33533Phe
XM_017004821.1:c.100594G>T (TTN)	XP_016860310.1:p.Val33532Phe
XM_017004822.1:c.97636G>T (TTN)	XP_016860311.1:p.Val32546Phe
XM_017004823.1:c.79252G>T (TTN)	XP_016860312.1:p.Val26418Phe
XM_024453094.1:c.100747G>T (TTN)	XP_024308862.1:p.Val33583Phe
XM_024453095.1:c.100744G>T (TTN)	XP_024308863.1:p.Val33582Phe
XM_024453096.1:c.100177G>T (TTN)	XP_024308864.1:p.Val33393Phe
XM_024453097.1:c.97519G>T (TTN)	XP_024308865.1:p.Val32507Phe
XM_024453098.1:c.97438G>T (TTN)	XP_024308866.1:p.Val32480Phe
XM_024453099.1:c.79201G>T (TTN)	XP_024308867.1:p.Val26401Phe
XM_024453100.1:c.69055G>T (TTN)	XP_024308868.1:p.Val23019Phe