Canonical Allele Identifier: CA349581106

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179429234T>G (hg19) ; chr2:g.178564507T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178564507T>G , CM000664.2:g.178564507T>G	GRCh38
NC_000002.11:g.179429234T>G , CM000664.1:g.179429234T>G	GRCh37
NC_000002.10:g.179137480T>G	NCBI36
NG_011618.3:g.271296A>C , LRG_391:g.271296A>C
NG_051363.1:g.46681T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.73921A>C (TTN)	ENSP00000343764.6:p.Lys24641Gln
ENST00000342175.11:c.55006A>C (TTN)	ENSP00000340554.6:p.Lys18336Gln
ENST00000359218.10:c.54805A>C (TTN)	ENSP00000352154.5:p.Lys18269Gln
ENST00000342175.10:c.55006A>C (TTN)	ENSP00000340554.6:p.Lys18336Gln
ENST00000342992.10:c.73921A>C (TTN)	ENSP00000343764.6:p.Lys24641Gln
ENST00000359218.9:c.54805A>C (TTN)	ENSP00000352154.5:p.Lys18269Gln
ENST00000460472.6:c.54430A>C (TTN)	ENSP00000434586.1:p.Lys18144Gln
ENST00000589042.5:c.81625A>C (TTN) MANE Select	ENSP00000467141.1:p.Lys27209Gln
ENST00000591111.5:c.76702A>C (TTN)	ENSP00000465570.1:p.Lys25568Gln
ENST00000615779.4:c.76702A>C (TTN)	ENSP00000483597.1:p.Lys25568Gln
NM_001256850.1:c.76702A>C (TTN)	NP_001243779.1:p.Lys25568Gln
NM_001267550.2:c.81625A>C (TTN) MANE Select	NP_001254479.2:p.Lys27209Gln
NM_003319.4:c.54430A>C (TTN)	NP_003310.4:p.Lys18144Gln
NM_133378.4:c.73921A>C (TTN)	NP_596869.4:p.Lys24641Gln
NM_133432.3:c.54805A>C (TTN)	NP_597676.3:p.Lys18269Gln
NM_133437.4:c.55006A>C (TTN)	NP_597681.4:p.Lys18336Gln
NR_038271.1:n.447-6793T>G (TTN-AS1)
NR_038272.1:n.2044-18065T>G (TTN-AS1)
XM_011511729.1:c.80722A>C (TTN)	XP_011510031.1:p.Lys26908Gln
XM_011511730.1:c.54616A>C (TTN)	XP_011510032.1:p.Lys18206Gln
XM_011511731.1:c.54475A>C (TTN)	XP_011510033.1:p.Lys18159Gln
XM_017004819.1:c.80518A>C (TTN)	XP_016860308.1:p.Lys26840Gln
XM_017004820.1:c.75916A>C (TTN)	XP_016860309.1:p.Lys25306Gln
XM_017004821.1:c.75913A>C (TTN)	XP_016860310.1:p.Lys25305Gln
XM_017004822.1:c.72955A>C (TTN)	XP_016860311.1:p.Lys24319Gln
XM_017004823.1:c.54571A>C (TTN)	XP_016860312.1:p.Lys18191Gln
XM_024453094.1:c.76066A>C (TTN)	XP_024308862.1:p.Lys25356Gln
XM_024453095.1:c.76063A>C (TTN)	XP_024308863.1:p.Lys25355Gln
XM_024453096.1:c.75496A>C (TTN)	XP_024308864.1:p.Lys25166Gln
XM_024453097.1:c.72838A>C (TTN)	XP_024308865.1:p.Lys24280Gln
XM_024453098.1:c.72757A>C (TTN)	XP_024308866.1:p.Lys24253Gln
XM_024453099.1:c.54520A>C (TTN)	XP_024308867.1:p.Lys18174Gln
XM_024453100.1:c.44374A>C (TTN)	XP_024308868.1:p.Lys14792Gln