Canonical Allele Identifier: CA349406126

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395024C>G (hg19) ; chr2:g.178530297C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530297C>G , CM000664.2:g.178530297C>G	GRCh38
NC_000002.11:g.179395024C>G , CM000664.1:g.179395024C>G	GRCh37
NC_000002.10:g.179103270C>G	NCBI36
NG_011618.3:g.305506G>C , LRG_391:g.305506G>C
NG_051363.1:g.12471C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98614G>C (TTN)	ENSP00000343764.6:p.Ala32872Pro
ENST00000342175.11:c.79699G>C (TTN)	ENSP00000340554.6:p.Ala26567Pro
ENST00000359218.10:c.79498G>C (TTN)	ENSP00000352154.5:p.Ala26500Pro
ENST00000342175.10:c.79699G>C (TTN)	ENSP00000340554.6:p.Ala26567Pro
ENST00000342992.10:c.98614G>C (TTN)	ENSP00000343764.6:p.Ala32872Pro
ENST00000359218.9:c.79498G>C (TTN)	ENSP00000352154.5:p.Ala26500Pro
ENST00000460472.6:c.79123G>C (TTN)	ENSP00000434586.1:p.Ala26375Pro
ENST00000589042.5:c.106318G>C (TTN) MANE Select	ENSP00000467141.1:p.Ala35440Pro
ENST00000591111.5:c.101395G>C (TTN)	ENSP00000465570.1:p.Ala33799Pro
ENST00000615779.4:c.101395G>C (TTN)	ENSP00000483597.1:p.Ala33799Pro
NM_001256850.1:c.101395G>C (TTN)	NP_001243779.1:p.Ala33799Pro
NM_001267550.2:c.106318G>C (TTN) MANE Select	NP_001254479.2:p.Ala35440Pro
NM_003319.4:c.79123G>C (TTN)	NP_003310.4:p.Ala26375Pro
NM_133378.4:c.98614G>C (TTN)	NP_596869.4:p.Ala32872Pro
NM_133432.3:c.79498G>C (TTN)	NP_597676.3:p.Ala26500Pro
NM_133437.4:c.79699G>C (TTN)	NP_597681.4:p.Ala26567Pro
NR_038271.1:n.446+6661C>G (TTN-AS1)
NR_038272.1:n.220-5435C>G (TTN-AS1)
XM_011511729.1:c.105415G>C (TTN)	XP_011510031.1:p.Ala35139Pro
XM_011511730.1:c.79309G>C (TTN)	XP_011510032.1:p.Ala26437Pro
XM_011511731.1:c.79168G>C (TTN)	XP_011510033.1:p.Ala26390Pro
XM_017004819.1:c.105211G>C (TTN)	XP_016860308.1:p.Ala35071Pro
XM_017004820.1:c.100609G>C (TTN)	XP_016860309.1:p.Ala33537Pro
XM_017004821.1:c.100606G>C (TTN)	XP_016860310.1:p.Ala33536Pro
XM_017004822.1:c.97648G>C (TTN)	XP_016860311.1:p.Ala32550Pro
XM_017004823.1:c.79264G>C (TTN)	XP_016860312.1:p.Ala26422Pro
XM_024453094.1:c.100759G>C (TTN)	XP_024308862.1:p.Ala33587Pro
XM_024453095.1:c.100756G>C (TTN)	XP_024308863.1:p.Ala33586Pro
XM_024453096.1:c.100189G>C (TTN)	XP_024308864.1:p.Ala33397Pro
XM_024453097.1:c.97531G>C (TTN)	XP_024308865.1:p.Ala32511Pro
XM_024453098.1:c.97450G>C (TTN)	XP_024308866.1:p.Ala32484Pro
XM_024453099.1:c.79213G>C (TTN)	XP_024308867.1:p.Ala26405Pro
XM_024453100.1:c.69067G>C (TTN)	XP_024308868.1:p.Ala23023Pro