Canonical Allele Identifier: CA349450363

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408578A>G (hg19) ; chr2:g.178543851A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543851A>G , CM000664.2:g.178543851A>G	GRCh38
NC_000002.11:g.179408578A>G , CM000664.1:g.179408578A>G	GRCh37
NC_000002.10:g.179116824A>G	NCBI36
NG_011618.3:g.291952T>C , LRG_391:g.291952T>C
NG_051363.1:g.26025A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88589T>C (TTN)	ENSP00000343764.6:p.Val29530Ala
ENST00000342175.11:c.69674T>C (TTN)	ENSP00000340554.6:p.Val23225Ala
ENST00000359218.10:c.69473T>C (TTN)	ENSP00000352154.5:p.Val23158Ala
ENST00000342175.10:c.69674T>C (TTN)	ENSP00000340554.6:p.Val23225Ala
ENST00000342992.10:c.88589T>C (TTN)	ENSP00000343764.6:p.Val29530Ala
ENST00000359218.9:c.69473T>C (TTN)	ENSP00000352154.5:p.Val23158Ala
ENST00000460472.6:c.69098T>C (TTN)	ENSP00000434586.1:p.Val23033Ala
ENST00000589042.5:c.96293T>C (TTN) MANE Select	ENSP00000467141.1:p.Val32098Ala
ENST00000591111.5:c.91370T>C (TTN)	ENSP00000465570.1:p.Val30457Ala
ENST00000615779.4:c.91370T>C (TTN)	ENSP00000483597.1:p.Val30457Ala
NM_001256850.1:c.91370T>C (TTN)	NP_001243779.1:p.Val30457Ala
NM_001267550.2:c.96293T>C (TTN) MANE Select	NP_001254479.2:p.Val32098Ala
NM_003319.4:c.69098T>C (TTN)	NP_003310.4:p.Val23033Ala
NM_133378.4:c.88589T>C (TTN)	NP_596869.4:p.Val29530Ala
NM_133432.3:c.69473T>C (TTN)	NP_597676.3:p.Val23158Ala
NM_133437.4:c.69674T>C (TTN)	NP_597681.4:p.Val23225Ala
NR_038271.1:n.446+20215A>G (TTN-AS1)
NR_038272.1:n.2043+1490A>G (TTN-AS1)
XM_011511729.1:c.95390T>C (TTN)	XP_011510031.1:p.Val31797Ala
XM_011511730.1:c.69284T>C (TTN)	XP_011510032.1:p.Val23095Ala
XM_011511731.1:c.69143T>C (TTN)	XP_011510033.1:p.Val23048Ala
XM_017004819.1:c.95186T>C (TTN)	XP_016860308.1:p.Val31729Ala
XM_017004820.1:c.90584T>C (TTN)	XP_016860309.1:p.Val30195Ala
XM_017004821.1:c.90581T>C (TTN)	XP_016860310.1:p.Val30194Ala
XM_017004822.1:c.87623T>C (TTN)	XP_016860311.1:p.Val29208Ala
XM_017004823.1:c.69239T>C (TTN)	XP_016860312.1:p.Val23080Ala
XM_024453094.1:c.90734T>C (TTN)	XP_024308862.1:p.Val30245Ala
XM_024453095.1:c.90731T>C (TTN)	XP_024308863.1:p.Val30244Ala
XM_024453096.1:c.90164T>C (TTN)	XP_024308864.1:p.Val30055Ala
XM_024453097.1:c.87506T>C (TTN)	XP_024308865.1:p.Val29169Ala
XM_024453098.1:c.87425T>C (TTN)	XP_024308866.1:p.Val29142Ala
XM_024453099.1:c.69188T>C (TTN)	XP_024308867.1:p.Val23063Ala
XM_024453100.1:c.59042T>C (TTN)	XP_024308868.1:p.Val19681Ala