Canonical Allele Identifier: CA349411840

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM4847291 ; COSM4847292 ; COSM4847293 ; COSM4847294
• MyVariant Identifiers: chr2:g.179396953C>G (hg19) ; chr2:g.178532226C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532226C>G , CM000664.2:g.178532226C>G	GRCh38
NC_000002.11:g.179396953C>G , CM000664.1:g.179396953C>G	GRCh37
NC_000002.10:g.179105199C>G	NCBI36
NG_011618.3:g.303577G>C , LRG_391:g.303577G>C
NG_051363.1:g.14400C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96685G>C (TTN)	ENSP00000343764.6:p.Glu32229Gln
ENST00000342175.11:c.77770G>C (TTN)	ENSP00000340554.6:p.Glu25924Gln
ENST00000359218.10:c.77569G>C (TTN)	ENSP00000352154.5:p.Glu25857Gln
ENST00000342175.10:c.77770G>C (TTN)	ENSP00000340554.6:p.Glu25924Gln
ENST00000342992.10:c.96685G>C (TTN)	ENSP00000343764.6:p.Glu32229Gln
ENST00000359218.9:c.77569G>C (TTN)	ENSP00000352154.5:p.Glu25857Gln
ENST00000460472.6:c.77194G>C (TTN)	ENSP00000434586.1:p.Glu25732Gln
ENST00000589042.5:c.104389G>C (TTN) MANE Select	ENSP00000467141.1:p.Glu34797Gln
ENST00000591111.5:c.99466G>C (TTN)	ENSP00000465570.1:p.Glu33156Gln
ENST00000615779.4:c.99466G>C (TTN)	ENSP00000483597.1:p.Glu33156Gln
NM_001256850.1:c.99466G>C (TTN)	NP_001243779.1:p.Glu33156Gln
NM_001267550.2:c.104389G>C (TTN) MANE Select	NP_001254479.2:p.Glu34797Gln
NM_003319.4:c.77194G>C (TTN)	NP_003310.4:p.Glu25732Gln
NM_133378.4:c.96685G>C (TTN)	NP_596869.4:p.Glu32229Gln
NM_133432.3:c.77569G>C (TTN)	NP_597676.3:p.Glu25857Gln
NM_133437.4:c.77770G>C (TTN)	NP_597681.4:p.Glu25924Gln
NR_038271.1:n.446+8590C>G (TTN-AS1)
NR_038272.1:n.220-3506C>G (TTN-AS1)
XM_011511729.1:c.103486G>C (TTN)	XP_011510031.1:p.Glu34496Gln
XM_011511730.1:c.77380G>C (TTN)	XP_011510032.1:p.Glu25794Gln
XM_011511731.1:c.77239G>C (TTN)	XP_011510033.1:p.Glu25747Gln
XM_017004819.1:c.103282G>C (TTN)	XP_016860308.1:p.Glu34428Gln
XM_017004820.1:c.98680G>C (TTN)	XP_016860309.1:p.Glu32894Gln
XM_017004821.1:c.98677G>C (TTN)	XP_016860310.1:p.Glu32893Gln
XM_017004822.1:c.95719G>C (TTN)	XP_016860311.1:p.Glu31907Gln
XM_017004823.1:c.77335G>C (TTN)	XP_016860312.1:p.Glu25779Gln
XM_024453094.1:c.98830G>C (TTN)	XP_024308862.1:p.Glu32944Gln
XM_024453095.1:c.98827G>C (TTN)	XP_024308863.1:p.Glu32943Gln
XM_024453096.1:c.98260G>C (TTN)	XP_024308864.1:p.Glu32754Gln
XM_024453097.1:c.95602G>C (TTN)	XP_024308865.1:p.Glu31868Gln
XM_024453098.1:c.95521G>C (TTN)	XP_024308866.1:p.Glu31841Gln
XM_024453099.1:c.77284G>C (TTN)	XP_024308867.1:p.Glu25762Gln
XM_024453100.1:c.67138G>C (TTN)	XP_024308868.1:p.Glu22380Gln