Canonical Allele Identifier: CA349601294

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179432110A>G (hg19) ; chr2:g.178567383A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567383A>G , CM000664.2:g.178567383A>G	GRCh38
NC_000002.11:g.179432110A>G , CM000664.1:g.179432110A>G	GRCh37
NC_000002.10:g.179140356A>G	NCBI36
NG_011618.3:g.268420T>C , LRG_391:g.268420T>C
NG_051363.1:g.49557A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.71045T>C (TTN)	ENSP00000343764.6:p.Leu23682Ser
ENST00000342175.11:c.52130T>C (TTN)	ENSP00000340554.6:p.Leu17377Ser
ENST00000359218.10:c.51929T>C (TTN)	ENSP00000352154.5:p.Leu17310Ser
ENST00000342175.10:c.52130T>C (TTN)	ENSP00000340554.6:p.Leu17377Ser
ENST00000342992.10:c.71045T>C (TTN)	ENSP00000343764.6:p.Leu23682Ser
ENST00000359218.9:c.51929T>C (TTN)	ENSP00000352154.5:p.Leu17310Ser
ENST00000460472.6:c.51554T>C (TTN)	ENSP00000434586.1:p.Leu17185Ser
ENST00000589042.5:c.78749T>C (TTN) MANE Select	ENSP00000467141.1:p.Leu26250Ser
ENST00000591111.5:c.73826T>C (TTN)	ENSP00000465570.1:p.Leu24609Ser
ENST00000615779.4:c.73826T>C (TTN)	ENSP00000483597.1:p.Leu24609Ser
NM_001256850.1:c.73826T>C (TTN)	NP_001243779.1:p.Leu24609Ser
NM_001267550.2:c.78749T>C (TTN) MANE Select	NP_001254479.2:p.Leu26250Ser
NM_003319.4:c.51554T>C (TTN)	NP_003310.4:p.Leu17185Ser
NM_133378.4:c.71045T>C (TTN)	NP_596869.4:p.Leu23682Ser
NM_133432.3:c.51929T>C (TTN)	NP_597676.3:p.Leu17310Ser
NM_133437.4:c.52130T>C (TTN)	NP_597681.4:p.Leu17377Ser
NR_038271.1:n.447-3917A>G (TTN-AS1)
NR_038272.1:n.2044-15189A>G (TTN-AS1)
XM_011511729.1:c.77846T>C (TTN)	XP_011510031.1:p.Leu25949Ser
XM_011511730.1:c.51740T>C (TTN)	XP_011510032.1:p.Leu17247Ser
XM_011511731.1:c.51599T>C (TTN)	XP_011510033.1:p.Leu17200Ser
XM_017004819.1:c.77642T>C (TTN)	XP_016860308.1:p.Leu25881Ser
XM_017004820.1:c.73040T>C (TTN)	XP_016860309.1:p.Leu24347Ser
XM_017004821.1:c.73037T>C (TTN)	XP_016860310.1:p.Leu24346Ser
XM_017004822.1:c.70079T>C (TTN)	XP_016860311.1:p.Leu23360Ser
XM_017004823.1:c.51695T>C (TTN)	XP_016860312.1:p.Leu17232Ser
XM_024453094.1:c.73190T>C (TTN)	XP_024308862.1:p.Leu24397Ser
XM_024453095.1:c.73187T>C (TTN)	XP_024308863.1:p.Leu24396Ser
XM_024453096.1:c.72620T>C (TTN)	XP_024308864.1:p.Leu24207Ser
XM_024453097.1:c.69962T>C (TTN)	XP_024308865.1:p.Leu23321Ser
XM_024453098.1:c.69881T>C (TTN)	XP_024308866.1:p.Leu23294Ser
XM_024453099.1:c.51644T>C (TTN)	XP_024308867.1:p.Leu17215Ser
XM_024453100.1:c.41498T>C (TTN)	XP_024308868.1:p.Leu13833Ser