Canonical Allele Identifier: CA349411930

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179396991G>A (hg19) ; chr2:g.178532264G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532264G>A , CM000664.2:g.178532264G>A	GRCh38
NC_000002.11:g.179396991G>A , CM000664.1:g.179396991G>A	GRCh37
NC_000002.10:g.179105237G>A	NCBI36
NG_011618.3:g.303539C>T , LRG_391:g.303539C>T
NG_051363.1:g.14438G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96647C>T (TTN)	ENSP00000343764.6:p.Ser32216Leu
ENST00000342175.11:c.77732C>T (TTN)	ENSP00000340554.6:p.Ser25911Leu
ENST00000359218.10:c.77531C>T (TTN)	ENSP00000352154.5:p.Ser25844Leu
ENST00000342175.10:c.77732C>T (TTN)	ENSP00000340554.6:p.Ser25911Leu
ENST00000342992.10:c.96647C>T (TTN)	ENSP00000343764.6:p.Ser32216Leu
ENST00000359218.9:c.77531C>T (TTN)	ENSP00000352154.5:p.Ser25844Leu
ENST00000460472.6:c.77156C>T (TTN)	ENSP00000434586.1:p.Ser25719Leu
ENST00000589042.5:c.104351C>T (TTN) MANE Select	ENSP00000467141.1:p.Ser34784Leu
ENST00000591111.5:c.99428C>T (TTN)	ENSP00000465570.1:p.Ser33143Leu
ENST00000615779.4:c.99428C>T (TTN)	ENSP00000483597.1:p.Ser33143Leu
NM_001256850.1:c.99428C>T (TTN)	NP_001243779.1:p.Ser33143Leu
NM_001267550.2:c.104351C>T (TTN) MANE Select	NP_001254479.2:p.Ser34784Leu
NM_003319.4:c.77156C>T (TTN)	NP_003310.4:p.Ser25719Leu
NM_133378.4:c.96647C>T (TTN)	NP_596869.4:p.Ser32216Leu
NM_133432.3:c.77531C>T (TTN)	NP_597676.3:p.Ser25844Leu
NM_133437.4:c.77732C>T (TTN)	NP_597681.4:p.Ser25911Leu
NR_038271.1:n.446+8628G>A (TTN-AS1)
NR_038272.1:n.220-3468G>A (TTN-AS1)
XM_011511729.1:c.103448C>T (TTN)	XP_011510031.1:p.Ser34483Leu
XM_011511730.1:c.77342C>T (TTN)	XP_011510032.1:p.Ser25781Leu
XM_011511731.1:c.77201C>T (TTN)	XP_011510033.1:p.Ser25734Leu
XM_017004819.1:c.103244C>T (TTN)	XP_016860308.1:p.Ser34415Leu
XM_017004820.1:c.98642C>T (TTN)	XP_016860309.1:p.Ser32881Leu
XM_017004821.1:c.98639C>T (TTN)	XP_016860310.1:p.Ser32880Leu
XM_017004822.1:c.95681C>T (TTN)	XP_016860311.1:p.Ser31894Leu
XM_017004823.1:c.77297C>T (TTN)	XP_016860312.1:p.Ser25766Leu
XM_024453094.1:c.98792C>T (TTN)	XP_024308862.1:p.Ser32931Leu
XM_024453095.1:c.98789C>T (TTN)	XP_024308863.1:p.Ser32930Leu
XM_024453096.1:c.98222C>T (TTN)	XP_024308864.1:p.Ser32741Leu
XM_024453097.1:c.95564C>T (TTN)	XP_024308865.1:p.Ser31855Leu
XM_024453098.1:c.95483C>T (TTN)	XP_024308866.1:p.Ser31828Leu
XM_024453099.1:c.77246C>T (TTN)	XP_024308867.1:p.Ser25749Leu
XM_024453100.1:c.67100C>T (TTN)	XP_024308868.1:p.Ser22367Leu