Canonical Allele Identifier: CA349405312

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179394789A>C (hg19) ; chr2:g.178530062A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530062A>C , CM000664.2:g.178530062A>C	GRCh38
NC_000002.11:g.179394789A>C , CM000664.1:g.179394789A>C	GRCh37
NC_000002.10:g.179103035A>C	NCBI36
NG_011618.3:g.305741T>G , LRG_391:g.305741T>G
NG_051363.1:g.12236A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98725T>G (TTN)	ENSP00000343764.6:p.Leu32909Val
ENST00000342175.11:c.79810T>G (TTN)	ENSP00000340554.6:p.Leu26604Val
ENST00000359218.10:c.79609T>G (TTN)	ENSP00000352154.5:p.Leu26537Val
ENST00000342175.10:c.79810T>G (TTN)	ENSP00000340554.6:p.Leu26604Val
ENST00000342992.10:c.98725T>G (TTN)	ENSP00000343764.6:p.Leu32909Val
ENST00000359218.9:c.79609T>G (TTN)	ENSP00000352154.5:p.Leu26537Val
ENST00000460472.6:c.79234T>G (TTN)	ENSP00000434586.1:p.Leu26412Val
ENST00000589042.5:c.106429T>G (TTN) MANE Select	ENSP00000467141.1:p.Leu35477Val
ENST00000591111.5:c.101506T>G (TTN)	ENSP00000465570.1:p.Leu33836Val
ENST00000615779.4:c.101506T>G (TTN)	ENSP00000483597.1:p.Leu33836Val
NM_001256850.1:c.101506T>G (TTN)	NP_001243779.1:p.Leu33836Val
NM_001267550.2:c.106429T>G (TTN) MANE Select	NP_001254479.2:p.Leu35477Val
NM_003319.4:c.79234T>G (TTN)	NP_003310.4:p.Leu26412Val
NM_133378.4:c.98725T>G (TTN)	NP_596869.4:p.Leu32909Val
NM_133432.3:c.79609T>G (TTN)	NP_597676.3:p.Leu26537Val
NM_133437.4:c.79810T>G (TTN)	NP_597681.4:p.Leu26604Val
NR_038271.1:n.446+6426A>C (TTN-AS1)
NR_038272.1:n.220-5670A>C (TTN-AS1)
XM_011511729.1:c.105526T>G (TTN)	XP_011510031.1:p.Leu35176Val
XM_011511730.1:c.79420T>G (TTN)	XP_011510032.1:p.Leu26474Val
XM_011511731.1:c.79279T>G (TTN)	XP_011510033.1:p.Leu26427Val
XM_017004819.1:c.105322T>G (TTN)	XP_016860308.1:p.Leu35108Val
XM_017004820.1:c.100720T>G (TTN)	XP_016860309.1:p.Leu33574Val
XM_017004821.1:c.100717T>G (TTN)	XP_016860310.1:p.Leu33573Val
XM_017004822.1:c.97759T>G (TTN)	XP_016860311.1:p.Leu32587Val
XM_017004823.1:c.79375T>G (TTN)	XP_016860312.1:p.Leu26459Val
XM_024453094.1:c.100870T>G (TTN)	XP_024308862.1:p.Leu33624Val
XM_024453095.1:c.100867T>G (TTN)	XP_024308863.1:p.Leu33623Val
XM_024453096.1:c.100300T>G (TTN)	XP_024308864.1:p.Leu33434Val
XM_024453097.1:c.97642T>G (TTN)	XP_024308865.1:p.Leu32548Val
XM_024453098.1:c.97561T>G (TTN)	XP_024308866.1:p.Leu32521Val
XM_024453099.1:c.79324T>G (TTN)	XP_024308867.1:p.Leu26442Val
XM_024453100.1:c.69178T>G (TTN)	XP_024308868.1:p.Leu23060Val