Canonical Allele Identifier: CA349451305

Gene: TTN TTN-AS1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88502T>G (TTN)	ENSP00000343764.6:p.Leu29501Trp
ENST00000342175.11:c.69587T>G (TTN)	ENSP00000340554.6:p.Leu23196Trp
ENST00000359218.10:c.69386T>G (TTN)	ENSP00000352154.5:p.Leu23129Trp
ENST00000342175.10:c.69587T>G (TTN)	ENSP00000340554.6:p.Leu23196Trp
ENST00000342992.10:c.88502T>G (TTN)	ENSP00000343764.6:p.Leu29501Trp
ENST00000359218.9:c.69386T>G (TTN)	ENSP00000352154.5:p.Leu23129Trp
ENST00000460472.6:c.69011T>G (TTN)	ENSP00000434586.1:p.Leu23004Trp
ENST00000589042.5:c.96206T>G (TTN) MANE Select	ENSP00000467141.1:p.Leu32069Trp
ENST00000591111.5:c.91283T>G (TTN)	ENSP00000465570.1:p.Leu30428Trp
ENST00000615779.4:c.91283T>G (TTN)	ENSP00000483597.1:p.Leu30428Trp
NM_001256850.1:c.91283T>G (TTN)	NP_001243779.1:p.Leu30428Trp
NM_001267550.2:c.96206T>G (TTN) MANE Select	NP_001254479.2:p.Leu32069Trp
NM_003319.4:c.69011T>G (TTN)	NP_003310.4:p.Leu23004Trp
NM_133378.4:c.88502T>G (TTN)	NP_596869.4:p.Leu29501Trp
NM_133432.3:c.69386T>G (TTN)	NP_597676.3:p.Leu23129Trp
NM_133437.4:c.69587T>G (TTN)	NP_597681.4:p.Leu23196Trp
NR_038271.1:n.446+20302A>C (TTN-AS1)
NR_038272.1:n.2043+1577A>C (TTN-AS1)
XM_011511729.1:c.95303T>G (TTN)	XP_011510031.1:p.Leu31768Trp
XM_011511730.1:c.69197T>G (TTN)	XP_011510032.1:p.Leu23066Trp
XM_011511731.1:c.69056T>G (TTN)	XP_011510033.1:p.Leu23019Trp
XM_017004819.1:c.95099T>G (TTN)	XP_016860308.1:p.Leu31700Trp
XM_017004820.1:c.90497T>G (TTN)	XP_016860309.1:p.Leu30166Trp
XM_017004821.1:c.90494T>G (TTN)	XP_016860310.1:p.Leu30165Trp
XM_017004822.1:c.87536T>G (TTN)	XP_016860311.1:p.Leu29179Trp
XM_017004823.1:c.69152T>G (TTN)	XP_016860312.1:p.Leu23051Trp
XM_024453094.1:c.90647T>G (TTN)	XP_024308862.1:p.Leu30216Trp
XM_024453095.1:c.90644T>G (TTN)	XP_024308863.1:p.Leu30215Trp
XM_024453096.1:c.90077T>G (TTN)	XP_024308864.1:p.Leu30026Trp
XM_024453097.1:c.87419T>G (TTN)	XP_024308865.1:p.Leu29140Trp
XM_024453098.1:c.87338T>G (TTN)	XP_024308866.1:p.Leu29113Trp
XM_024453099.1:c.69101T>G (TTN)	XP_024308867.1:p.Leu23034Trp
XM_024453100.1:c.58955T>G (TTN)	XP_024308868.1:p.Leu19652Trp