Canonical Allele Identifier: CA349451329

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408665A>T (hg19) ; chr2:g.178543938A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543938A>T , CM000664.2:g.178543938A>T	GRCh38
NC_000002.11:g.179408665A>T , CM000664.1:g.179408665A>T	GRCh37
NC_000002.10:g.179116911A>T	NCBI36
NG_011618.3:g.291865T>A , LRG_391:g.291865T>A
NG_051363.1:g.26112A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88502T>A (TTN)	ENSP00000343764.6:p.Leu29501Ter
ENST00000342175.11:c.69587T>A (TTN)	ENSP00000340554.6:p.Leu23196Ter
ENST00000359218.10:c.69386T>A (TTN)	ENSP00000352154.5:p.Leu23129Ter
ENST00000342175.10:c.69587T>A (TTN)	ENSP00000340554.6:p.Leu23196Ter
ENST00000342992.10:c.88502T>A (TTN)	ENSP00000343764.6:p.Leu29501Ter
ENST00000359218.9:c.69386T>A (TTN)	ENSP00000352154.5:p.Leu23129Ter
ENST00000460472.6:c.69011T>A (TTN)	ENSP00000434586.1:p.Leu23004Ter
ENST00000589042.5:c.96206T>A (TTN) MANE Select	ENSP00000467141.1:p.Leu32069Ter
ENST00000591111.5:c.91283T>A (TTN)	ENSP00000465570.1:p.Leu30428Ter
ENST00000615779.4:c.91283T>A (TTN)	ENSP00000483597.1:p.Leu30428Ter
NM_001256850.1:c.91283T>A (TTN)	NP_001243779.1:p.Leu30428Ter
NM_001267550.2:c.96206T>A (TTN) MANE Select	NP_001254479.2:p.Leu32069Ter
NM_003319.4:c.69011T>A (TTN)	NP_003310.4:p.Leu23004Ter
NM_133378.4:c.88502T>A (TTN)	NP_596869.4:p.Leu29501Ter
NM_133432.3:c.69386T>A (TTN)	NP_597676.3:p.Leu23129Ter
NM_133437.4:c.69587T>A (TTN)	NP_597681.4:p.Leu23196Ter
NR_038271.1:n.446+20302A>T (TTN-AS1)
NR_038272.1:n.2043+1577A>T (TTN-AS1)
XM_011511729.1:c.95303T>A (TTN)	XP_011510031.1:p.Leu31768Ter
XM_011511730.1:c.69197T>A (TTN)	XP_011510032.1:p.Leu23066Ter
XM_011511731.1:c.69056T>A (TTN)	XP_011510033.1:p.Leu23019Ter
XM_017004819.1:c.95099T>A (TTN)	XP_016860308.1:p.Leu31700Ter
XM_017004820.1:c.90497T>A (TTN)	XP_016860309.1:p.Leu30166Ter
XM_017004821.1:c.90494T>A (TTN)	XP_016860310.1:p.Leu30165Ter
XM_017004822.1:c.87536T>A (TTN)	XP_016860311.1:p.Leu29179Ter
XM_017004823.1:c.69152T>A (TTN)	XP_016860312.1:p.Leu23051Ter
XM_024453094.1:c.90647T>A (TTN)	XP_024308862.1:p.Leu30216Ter
XM_024453095.1:c.90644T>A (TTN)	XP_024308863.1:p.Leu30215Ter
XM_024453096.1:c.90077T>A (TTN)	XP_024308864.1:p.Leu30026Ter
XM_024453097.1:c.87419T>A (TTN)	XP_024308865.1:p.Leu29140Ter
XM_024453098.1:c.87338T>A (TTN)	XP_024308866.1:p.Leu29113Ter
XM_024453099.1:c.69101T>A (TTN)	XP_024308867.1:p.Leu23034Ter
XM_024453100.1:c.58955T>A (TTN)	XP_024308868.1:p.Leu19652Ter