Canonical Allele Identifier: CA349450237

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408566A>G (hg19) ; chr2:g.178543839A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543839A>G , CM000664.2:g.178543839A>G	GRCh38
NC_000002.11:g.179408566A>G , CM000664.1:g.179408566A>G	GRCh37
NC_000002.10:g.179116812A>G	NCBI36
NG_011618.3:g.291964T>C , LRG_391:g.291964T>C
NG_051363.1:g.26013A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.88601T>C (TTN)	ENSP00000343764.6:p.Val29534Ala
ENST00000342175.11:c.69686T>C (TTN)	ENSP00000340554.6:p.Val23229Ala
ENST00000359218.10:c.69485T>C (TTN)	ENSP00000352154.5:p.Val23162Ala
ENST00000342175.10:c.69686T>C (TTN)	ENSP00000340554.6:p.Val23229Ala
ENST00000342992.10:c.88601T>C (TTN)	ENSP00000343764.6:p.Val29534Ala
ENST00000359218.9:c.69485T>C (TTN)	ENSP00000352154.5:p.Val23162Ala
ENST00000460472.6:c.69110T>C (TTN)	ENSP00000434586.1:p.Val23037Ala
ENST00000589042.5:c.96305T>C (TTN) MANE Select	ENSP00000467141.1:p.Val32102Ala
ENST00000591111.5:c.91382T>C (TTN)	ENSP00000465570.1:p.Val30461Ala
ENST00000615779.4:c.91382T>C (TTN)	ENSP00000483597.1:p.Val30461Ala
NM_001256850.1:c.91382T>C (TTN)	NP_001243779.1:p.Val30461Ala
NM_001267550.2:c.96305T>C (TTN) MANE Select	NP_001254479.2:p.Val32102Ala
NM_003319.4:c.69110T>C (TTN)	NP_003310.4:p.Val23037Ala
NM_133378.4:c.88601T>C (TTN)	NP_596869.4:p.Val29534Ala
NM_133432.3:c.69485T>C (TTN)	NP_597676.3:p.Val23162Ala
NM_133437.4:c.69686T>C (TTN)	NP_597681.4:p.Val23229Ala
NR_038271.1:n.446+20203A>G (TTN-AS1)
NR_038272.1:n.2043+1478A>G (TTN-AS1)
XM_011511729.1:c.95402T>C (TTN)	XP_011510031.1:p.Val31801Ala
XM_011511730.1:c.69296T>C (TTN)	XP_011510032.1:p.Val23099Ala
XM_011511731.1:c.69155T>C (TTN)	XP_011510033.1:p.Val23052Ala
XM_017004819.1:c.95198T>C (TTN)	XP_016860308.1:p.Val31733Ala
XM_017004820.1:c.90596T>C (TTN)	XP_016860309.1:p.Val30199Ala
XM_017004821.1:c.90593T>C (TTN)	XP_016860310.1:p.Val30198Ala
XM_017004822.1:c.87635T>C (TTN)	XP_016860311.1:p.Val29212Ala
XM_017004823.1:c.69251T>C (TTN)	XP_016860312.1:p.Val23084Ala
XM_024453094.1:c.90746T>C (TTN)	XP_024308862.1:p.Val30249Ala
XM_024453095.1:c.90743T>C (TTN)	XP_024308863.1:p.Val30248Ala
XM_024453096.1:c.90176T>C (TTN)	XP_024308864.1:p.Val30059Ala
XM_024453097.1:c.87518T>C (TTN)	XP_024308865.1:p.Val29173Ala
XM_024453098.1:c.87437T>C (TTN)	XP_024308866.1:p.Val29146Ala
XM_024453099.1:c.69200T>C (TTN)	XP_024308867.1:p.Val23067Ala
XM_024453100.1:c.59054T>C (TTN)	XP_024308868.1:p.Val19685Ala