Canonical Allele Identifier: CA349411305

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM5904170 ; COSM5904171 ; COSM5904172 ; COSM5904173
• MyVariant Identifiers: chr2:g.179396733T>G (hg19) ; chr2:g.178532006T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532006T>G , CM000664.2:g.178532006T>G	GRCh38
NC_000002.11:g.179396733T>G , CM000664.1:g.179396733T>G	GRCh37
NC_000002.10:g.179104979T>G	NCBI36
NG_011618.3:g.303797A>C , LRG_391:g.303797A>C
NG_051363.1:g.14180T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96905A>C (TTN)	ENSP00000343764.6:p.Asp32302Ala
ENST00000342175.11:c.77990A>C (TTN)	ENSP00000340554.6:p.Asp25997Ala
ENST00000359218.10:c.77789A>C (TTN)	ENSP00000352154.5:p.Asp25930Ala
ENST00000342175.10:c.77990A>C (TTN)	ENSP00000340554.6:p.Asp25997Ala
ENST00000342992.10:c.96905A>C (TTN)	ENSP00000343764.6:p.Asp32302Ala
ENST00000359218.9:c.77789A>C (TTN)	ENSP00000352154.5:p.Asp25930Ala
ENST00000460472.6:c.77414A>C (TTN)	ENSP00000434586.1:p.Asp25805Ala
ENST00000589042.5:c.104609A>C (TTN) MANE Select	ENSP00000467141.1:p.Asp34870Ala
ENST00000591111.5:c.99686A>C (TTN)	ENSP00000465570.1:p.Asp33229Ala
ENST00000615779.4:c.99686A>C (TTN)	ENSP00000483597.1:p.Asp33229Ala
NM_001256850.1:c.99686A>C (TTN)	NP_001243779.1:p.Asp33229Ala
NM_001267550.2:c.104609A>C (TTN) MANE Select	NP_001254479.2:p.Asp34870Ala
NM_003319.4:c.77414A>C (TTN)	NP_003310.4:p.Asp25805Ala
NM_133378.4:c.96905A>C (TTN)	NP_596869.4:p.Asp32302Ala
NM_133432.3:c.77789A>C (TTN)	NP_597676.3:p.Asp25930Ala
NM_133437.4:c.77990A>C (TTN)	NP_597681.4:p.Asp25997Ala
NR_038271.1:n.446+8370T>G (TTN-AS1)
NR_038272.1:n.220-3726T>G (TTN-AS1)
XM_011511729.1:c.103706A>C (TTN)	XP_011510031.1:p.Asp34569Ala
XM_011511730.1:c.77600A>C (TTN)	XP_011510032.1:p.Asp25867Ala
XM_011511731.1:c.77459A>C (TTN)	XP_011510033.1:p.Asp25820Ala
XM_017004819.1:c.103502A>C (TTN)	XP_016860308.1:p.Asp34501Ala
XM_017004820.1:c.98900A>C (TTN)	XP_016860309.1:p.Asp32967Ala
XM_017004821.1:c.98897A>C (TTN)	XP_016860310.1:p.Asp32966Ala
XM_017004822.1:c.95939A>C (TTN)	XP_016860311.1:p.Asp31980Ala
XM_017004823.1:c.77555A>C (TTN)	XP_016860312.1:p.Asp25852Ala
XM_024453094.1:c.99050A>C (TTN)	XP_024308862.1:p.Asp33017Ala
XM_024453095.1:c.99047A>C (TTN)	XP_024308863.1:p.Asp33016Ala
XM_024453096.1:c.98480A>C (TTN)	XP_024308864.1:p.Asp32827Ala
XM_024453097.1:c.95822A>C (TTN)	XP_024308865.1:p.Asp31941Ala
XM_024453098.1:c.95741A>C (TTN)	XP_024308866.1:p.Asp31914Ala
XM_024453099.1:c.77504A>C (TTN)	XP_024308867.1:p.Asp25835Ala
XM_024453100.1:c.67358A>C (TTN)	XP_024308868.1:p.Asp22453Ala