Canonical Allele Identifier: CA349593284

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179430995G>C (hg19) ; chr2:g.178566268G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178566268G>C , CM000664.2:g.178566268G>C	GRCh38
NC_000002.11:g.179430995G>C , CM000664.1:g.179430995G>C	GRCh37
NC_000002.10:g.179139241G>C	NCBI36
NG_011618.3:g.269535C>G , LRG_391:g.269535C>G
NG_051363.1:g.48442G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.72160C>G (TTN)	ENSP00000343764.6:p.Pro24054Ala
ENST00000342175.11:c.53245C>G (TTN)	ENSP00000340554.6:p.Pro17749Ala
ENST00000359218.10:c.53044C>G (TTN)	ENSP00000352154.5:p.Pro17682Ala
ENST00000342175.10:c.53245C>G (TTN)	ENSP00000340554.6:p.Pro17749Ala
ENST00000342992.10:c.72160C>G (TTN)	ENSP00000343764.6:p.Pro24054Ala
ENST00000359218.9:c.53044C>G (TTN)	ENSP00000352154.5:p.Pro17682Ala
ENST00000460472.6:c.52669C>G (TTN)	ENSP00000434586.1:p.Pro17557Ala
ENST00000589042.5:c.79864C>G (TTN) MANE Select	ENSP00000467141.1:p.Pro26622Ala
ENST00000591111.5:c.74941C>G (TTN)	ENSP00000465570.1:p.Pro24981Ala
ENST00000615779.4:c.74941C>G (TTN)	ENSP00000483597.1:p.Pro24981Ala
NM_001256850.1:c.74941C>G (TTN)	NP_001243779.1:p.Pro24981Ala
NM_001267550.2:c.79864C>G (TTN) MANE Select	NP_001254479.2:p.Pro26622Ala
NM_003319.4:c.52669C>G (TTN)	NP_003310.4:p.Pro17557Ala
NM_133378.4:c.72160C>G (TTN)	NP_596869.4:p.Pro24054Ala
NM_133432.3:c.53044C>G (TTN)	NP_597676.3:p.Pro17682Ala
NM_133437.4:c.53245C>G (TTN)	NP_597681.4:p.Pro17749Ala
NR_038271.1:n.447-5032G>C (TTN-AS1)
NR_038272.1:n.2044-16304G>C (TTN-AS1)
XM_011511729.1:c.78961C>G (TTN)	XP_011510031.1:p.Pro26321Ala
XM_011511730.1:c.52855C>G (TTN)	XP_011510032.1:p.Pro17619Ala
XM_011511731.1:c.52714C>G (TTN)	XP_011510033.1:p.Pro17572Ala
XM_017004819.1:c.78757C>G (TTN)	XP_016860308.1:p.Pro26253Ala
XM_017004820.1:c.74155C>G (TTN)	XP_016860309.1:p.Pro24719Ala
XM_017004821.1:c.74152C>G (TTN)	XP_016860310.1:p.Pro24718Ala
XM_017004822.1:c.71194C>G (TTN)	XP_016860311.1:p.Pro23732Ala
XM_017004823.1:c.52810C>G (TTN)	XP_016860312.1:p.Pro17604Ala
XM_024453094.1:c.74305C>G (TTN)	XP_024308862.1:p.Pro24769Ala
XM_024453095.1:c.74302C>G (TTN)	XP_024308863.1:p.Pro24768Ala
XM_024453096.1:c.73735C>G (TTN)	XP_024308864.1:p.Pro24579Ala
XM_024453097.1:c.71077C>G (TTN)	XP_024308865.1:p.Pro23693Ala
XM_024453098.1:c.70996C>G (TTN)	XP_024308866.1:p.Pro23666Ala
XM_024453099.1:c.52759C>G (TTN)	XP_024308867.1:p.Pro17587Ala
XM_024453100.1:c.42613C>G (TTN)	XP_024308868.1:p.Pro14205Ala