Canonical Allele Identifier: CA1985043

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178528956C>G , CM000664.2:g.178528956C>G	GRCh38
NC_000002.11:g.179393683C>G , CM000664.1:g.179393683C>G	GRCh37
NC_000002.10:g.179101929C>G	NCBI36
NG_011618.3:g.306847G>C , LRG_391:g.306847G>C
NG_051363.1:g.11130C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.106795G>C (TTN) MANE Select	NP_001254479.2:p.Ala35599Pro
ENST00000589042.5:c.106795G>C (TTN) MANE Select	ENSP00000467141.1:p.Ala35599Pro
NM_001256850.1:c.101872G>C (TTN)	NP_001243779.1:p.Ala33958Pro
NM_003319.4:c.79600G>C (TTN)	NP_003310.4:p.Ala26534Pro
NM_133378.4:c.99091G>C (TTN)	NP_596869.4:p.Ala33031Pro
NM_133432.3:c.79975G>C (TTN)	NP_597676.3:p.Ala26659Pro
NM_133437.4:c.80176G>C (TTN)	NP_597681.4:p.Ala26726Pro
NR_038271.1:n.446+5320C>G (TTN-AS1)
NR_038272.1:n.219+5320C>G (TTN-AS1)
ENST00000342175.10:c.80176G>C (TTN)	ENSP00000340554.6:p.Ala26726Pro
ENST00000342175.11:c.80176G>C (TTN)	ENSP00000340554.6:p.Ala26726Pro
ENST00000342992.10:c.99091G>C (TTN)	ENSP00000343764.6:p.Ala33031Pro
ENST00000342992.11:c.99091G>C (TTN)	ENSP00000343764.6:p.Ala33031Pro
ENST00000359218.10:c.79975G>C (TTN)	ENSP00000352154.5:p.Ala26659Pro
ENST00000359218.9:c.79975G>C (TTN)	ENSP00000352154.5:p.Ala26659Pro
ENST00000460472.6:c.79600G>C (TTN)	ENSP00000434586.1:p.Ala26534Pro
ENST00000591111.5:c.101872G>C (TTN)	ENSP00000465570.1:p.Ala33958Pro
ENST00000615779.4:c.101872G>C (TTN)	ENSP00000483597.1:p.Ala33958Pro
XM_011511729.1:c.105892G>C (TTN)	XP_011510031.1:p.Ala35298Pro
XM_011511730.1:c.79786G>C (TTN)	XP_011510032.1:p.Ala26596Pro
XM_011511731.1:c.79645G>C (TTN)	XP_011510033.1:p.Ala26549Pro
XM_017004819.1:c.105688G>C (TTN)	XP_016860308.1:p.Ala35230Pro
XM_017004820.1:c.101086G>C (TTN)	XP_016860309.1:p.Ala33696Pro
XM_017004821.1:c.101083G>C (TTN)	XP_016860310.1:p.Ala33695Pro
XM_017004822.1:c.98125G>C (TTN)	XP_016860311.1:p.Ala32709Pro
XM_017004823.1:c.79741G>C (TTN)	XP_016860312.1:p.Ala26581Pro
XM_024453094.1:c.101236G>C (TTN)	XP_024308862.1:p.Ala33746Pro
XM_024453095.1:c.101233G>C (TTN)	XP_024308863.1:p.Ala33745Pro
XM_024453096.1:c.100666G>C (TTN)	XP_024308864.1:p.Ala33556Pro
XM_024453097.1:c.98008G>C (TTN)	XP_024308865.1:p.Ala32670Pro
XM_024453098.1:c.97927G>C (TTN)	XP_024308866.1:p.Ala32643Pro
XM_024453099.1:c.79690G>C (TTN)	XP_024308867.1:p.Ala26564Pro
XM_024453100.1:c.69544G>C (TTN)	XP_024308868.1:p.Ala23182Pro