Canonical Allele Identifier: CA349665264

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179440819T>G (hg19) ; chr2:g.178576092T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178576092T>G , CM000664.2:g.178576092T>G	GRCh38
NC_000002.11:g.179440819T>G , CM000664.1:g.179440819T>G	GRCh37
NC_000002.10:g.179149065T>G	NCBI36
NG_011618.3:g.259711A>C , LRG_391:g.259711A>C
NG_051363.1:g.58266T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.62336A>C (TTN)	ENSP00000343764.6:p.Asp20779Ala
ENST00000342175.11:c.43421A>C (TTN)	ENSP00000340554.6:p.Asp14474Ala
ENST00000359218.10:c.43220A>C (TTN)	ENSP00000352154.5:p.Asp14407Ala
ENST00000342175.10:c.43421A>C (TTN)	ENSP00000340554.6:p.Asp14474Ala
ENST00000342992.10:c.62336A>C (TTN)	ENSP00000343764.6:p.Asp20779Ala
ENST00000359218.9:c.43220A>C (TTN)	ENSP00000352154.5:p.Asp14407Ala
ENST00000460472.6:c.42845A>C (TTN)	ENSP00000434586.1:p.Asp14282Ala
ENST00000589042.5:c.70040A>C (TTN) MANE Select	ENSP00000467141.1:p.Asp23347Ala
ENST00000591111.5:c.65117A>C (TTN)	ENSP00000465570.1:p.Asp21706Ala
ENST00000615779.4:c.65117A>C (TTN)	ENSP00000483597.1:p.Asp21706Ala
NM_001256850.1:c.65117A>C (TTN)	NP_001243779.1:p.Asp21706Ala
NM_001267550.2:c.70040A>C (TTN) MANE Select	NP_001254479.2:p.Asp23347Ala
NM_003319.4:c.42845A>C (TTN)	NP_003310.4:p.Asp14282Ala
NM_133378.4:c.62336A>C (TTN)	NP_596869.4:p.Asp20779Ala
NM_133432.3:c.43220A>C (TTN)	NP_597676.3:p.Asp14407Ala
NM_133437.4:c.43421A>C (TTN)	NP_597681.4:p.Asp14474Ala
NR_038271.1:n.596+4643T>G (TTN-AS1)
NR_038272.1:n.2044-6480T>G (TTN-AS1)
XM_011511729.1:c.69137A>C (TTN)	XP_011510031.1:p.Asp23046Ala
XM_011511730.1:c.43031A>C (TTN)	XP_011510032.1:p.Asp14344Ala
XM_011511731.1:c.42890A>C (TTN)	XP_011510033.1:p.Asp14297Ala
XM_017004819.1:c.68933A>C (TTN)	XP_016860308.1:p.Asp22978Ala
XM_017004820.1:c.64331A>C (TTN)	XP_016860309.1:p.Asp21444Ala
XM_017004821.1:c.64328A>C (TTN)	XP_016860310.1:p.Asp21443Ala
XM_017004822.1:c.61370A>C (TTN)	XP_016860311.1:p.Asp20457Ala
XM_017004823.1:c.42986A>C (TTN)	XP_016860312.1:p.Asp14329Ala
XM_024453094.1:c.64481A>C (TTN)	XP_024308862.1:p.Asp21494Ala
XM_024453095.1:c.64478A>C (TTN)	XP_024308863.1:p.Asp21493Ala
XM_024453096.1:c.63911A>C (TTN)	XP_024308864.1:p.Asp21304Ala
XM_024453097.1:c.61253A>C (TTN)	XP_024308865.1:p.Asp20418Ala
XM_024453098.1:c.61172A>C (TTN)	XP_024308866.1:p.Asp20391Ala
XM_024453099.1:c.42935A>C (TTN)	XP_024308867.1:p.Asp14312Ala
XM_024453100.1:c.32789A>C (TTN)	XP_024308868.1:p.Asp10930Ala