Canonical Allele Identifier: CA349581120

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179429241A>C (hg19) ; chr2:g.178564514A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178564514A>C , CM000664.2:g.178564514A>C	GRCh38
NC_000002.11:g.179429241A>C , CM000664.1:g.179429241A>C	GRCh37
NC_000002.10:g.179137487A>C	NCBI36
NG_011618.3:g.271289T>G , LRG_391:g.271289T>G
NG_051363.1:g.46688A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.73914T>G (TTN)	ENSP00000343764.6:p.Ile24638Met
ENST00000342175.11:c.54999T>G (TTN)	ENSP00000340554.6:p.Ile18333Met
ENST00000359218.10:c.54798T>G (TTN)	ENSP00000352154.5:p.Ile18266Met
ENST00000342175.10:c.54999T>G (TTN)	ENSP00000340554.6:p.Ile18333Met
ENST00000342992.10:c.73914T>G (TTN)	ENSP00000343764.6:p.Ile24638Met
ENST00000359218.9:c.54798T>G (TTN)	ENSP00000352154.5:p.Ile18266Met
ENST00000460472.6:c.54423T>G (TTN)	ENSP00000434586.1:p.Ile18141Met
ENST00000589042.5:c.81618T>G (TTN) MANE Select	ENSP00000467141.1:p.Ile27206Met
ENST00000591111.5:c.76695T>G (TTN)	ENSP00000465570.1:p.Ile25565Met
ENST00000615779.4:c.76695T>G (TTN)	ENSP00000483597.1:p.Ile25565Met
NM_001256850.1:c.76695T>G (TTN)	NP_001243779.1:p.Ile25565Met
NM_001267550.2:c.81618T>G (TTN) MANE Select	NP_001254479.2:p.Ile27206Met
NM_003319.4:c.54423T>G (TTN)	NP_003310.4:p.Ile18141Met
NM_133378.4:c.73914T>G (TTN)	NP_596869.4:p.Ile24638Met
NM_133432.3:c.54798T>G (TTN)	NP_597676.3:p.Ile18266Met
NM_133437.4:c.54999T>G (TTN)	NP_597681.4:p.Ile18333Met
NR_038271.1:n.447-6786A>C (TTN-AS1)
NR_038272.1:n.2044-18058A>C (TTN-AS1)
XM_011511729.1:c.80715T>G (TTN)	XP_011510031.1:p.Ile26905Met
XM_011511730.1:c.54609T>G (TTN)	XP_011510032.1:p.Ile18203Met
XM_011511731.1:c.54468T>G (TTN)	XP_011510033.1:p.Ile18156Met
XM_017004819.1:c.80511T>G (TTN)	XP_016860308.1:p.Ile26837Met
XM_017004820.1:c.75909T>G (TTN)	XP_016860309.1:p.Ile25303Met
XM_017004821.1:c.75906T>G (TTN)	XP_016860310.1:p.Ile25302Met
XM_017004822.1:c.72948T>G (TTN)	XP_016860311.1:p.Ile24316Met
XM_017004823.1:c.54564T>G (TTN)	XP_016860312.1:p.Ile18188Met
XM_024453094.1:c.76059T>G (TTN)	XP_024308862.1:p.Ile25353Met
XM_024453095.1:c.76056T>G (TTN)	XP_024308863.1:p.Ile25352Met
XM_024453096.1:c.75489T>G (TTN)	XP_024308864.1:p.Ile25163Met
XM_024453097.1:c.72831T>G (TTN)	XP_024308865.1:p.Ile24277Met
XM_024453098.1:c.72750T>G (TTN)	XP_024308866.1:p.Ile24250Met
XM_024453099.1:c.54513T>G (TTN)	XP_024308867.1:p.Ile18171Met
XM_024453100.1:c.44367T>G (TTN)	XP_024308868.1:p.Ile14789Met