Canonical Allele Identifier: CA349455111

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408955C>G (hg19) ; chr2:g.178544228C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544228C>G , CM000664.2:g.178544228C>G	GRCh38
NC_000002.11:g.179408955C>G , CM000664.1:g.179408955C>G	GRCh37
NC_000002.10:g.179117201C>G	NCBI36
NG_011618.3:g.291575G>C , LRG_391:g.291575G>C
NG_051363.1:g.26402C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.88297G>C (TTN)	ENSP00000343764.6:p.Ala29433Pro
ENST00000342175.11:c.69382G>C (TTN)	ENSP00000340554.6:p.Ala23128Pro
ENST00000359218.10:c.69181G>C (TTN)	ENSP00000352154.5:p.Ala23061Pro
ENST00000342175.10:c.69382G>C (TTN)	ENSP00000340554.6:p.Ala23128Pro
ENST00000342992.10:c.88297G>C (TTN)	ENSP00000343764.6:p.Ala29433Pro
ENST00000359218.9:c.69181G>C (TTN)	ENSP00000352154.5:p.Ala23061Pro
ENST00000460472.6:c.68806G>C (TTN)	ENSP00000434586.1:p.Ala22936Pro
ENST00000589042.5:c.96001G>C (TTN) MANE Select	ENSP00000467141.1:p.Ala32001Pro
ENST00000591111.5:c.91078G>C (TTN)	ENSP00000465570.1:p.Ala30360Pro
ENST00000615779.4:c.91078G>C (TTN)	ENSP00000483597.1:p.Ala30360Pro
NM_001256850.1:c.91078G>C (TTN)	NP_001243779.1:p.Ala30360Pro
NM_001267550.2:c.96001G>C (TTN) MANE Select	NP_001254479.2:p.Ala32001Pro
NM_003319.4:c.68806G>C (TTN)	NP_003310.4:p.Ala22936Pro
NM_133378.4:c.88297G>C (TTN)	NP_596869.4:p.Ala29433Pro
NM_133432.3:c.69181G>C (TTN)	NP_597676.3:p.Ala23061Pro
NM_133437.4:c.69382G>C (TTN)	NP_597681.4:p.Ala23128Pro
NR_038271.1:n.446+20592C>G (TTN-AS1)
NR_038272.1:n.2043+1867C>G (TTN-AS1)
XM_011511729.1:c.95098G>C (TTN)	XP_011510031.1:p.Ala31700Pro
XM_011511730.1:c.68992G>C (TTN)	XP_011510032.1:p.Ala22998Pro
XM_011511731.1:c.68851G>C (TTN)	XP_011510033.1:p.Ala22951Pro
XM_017004819.1:c.94894G>C (TTN)	XP_016860308.1:p.Ala31632Pro
XM_017004820.1:c.90292G>C (TTN)	XP_016860309.1:p.Ala30098Pro
XM_017004821.1:c.90289G>C (TTN)	XP_016860310.1:p.Ala30097Pro
XM_017004822.1:c.87331G>C (TTN)	XP_016860311.1:p.Ala29111Pro
XM_017004823.1:c.68947G>C (TTN)	XP_016860312.1:p.Ala22983Pro
XM_024453094.1:c.90442G>C (TTN)	XP_024308862.1:p.Ala30148Pro
XM_024453095.1:c.90439G>C (TTN)	XP_024308863.1:p.Ala30147Pro
XM_024453096.1:c.89872G>C (TTN)	XP_024308864.1:p.Ala29958Pro
XM_024453097.1:c.87214G>C (TTN)	XP_024308865.1:p.Ala29072Pro
XM_024453098.1:c.87133G>C (TTN)	XP_024308866.1:p.Ala29045Pro
XM_024453099.1:c.68896G>C (TTN)	XP_024308867.1:p.Ala22966Pro
XM_024453100.1:c.58750G>C (TTN)	XP_024308868.1:p.Ala19584Pro