Canonical Allele Identifier: CA349581123

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179429243T>A (hg19) ; chr2:g.178564516T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178564516T>A , CM000664.2:g.178564516T>A	GRCh38
NC_000002.11:g.179429243T>A , CM000664.1:g.179429243T>A	GRCh37
NC_000002.10:g.179137489T>A	NCBI36
NG_011618.3:g.271287A>T , LRG_391:g.271287A>T
NG_051363.1:g.46690T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.73912A>T (TTN)	ENSP00000343764.6:p.Ile24638Phe
ENST00000342175.11:c.54997A>T (TTN)	ENSP00000340554.6:p.Ile18333Phe
ENST00000359218.10:c.54796A>T (TTN)	ENSP00000352154.5:p.Ile18266Phe
ENST00000342175.10:c.54997A>T (TTN)	ENSP00000340554.6:p.Ile18333Phe
ENST00000342992.10:c.73912A>T (TTN)	ENSP00000343764.6:p.Ile24638Phe
ENST00000359218.9:c.54796A>T (TTN)	ENSP00000352154.5:p.Ile18266Phe
ENST00000460472.6:c.54421A>T (TTN)	ENSP00000434586.1:p.Ile18141Phe
ENST00000589042.5:c.81616A>T (TTN) MANE Select	ENSP00000467141.1:p.Ile27206Phe
ENST00000591111.5:c.76693A>T (TTN)	ENSP00000465570.1:p.Ile25565Phe
ENST00000615779.4:c.76693A>T (TTN)	ENSP00000483597.1:p.Ile25565Phe
NM_001256850.1:c.76693A>T (TTN)	NP_001243779.1:p.Ile25565Phe
NM_001267550.2:c.81616A>T (TTN) MANE Select	NP_001254479.2:p.Ile27206Phe
NM_003319.4:c.54421A>T (TTN)	NP_003310.4:p.Ile18141Phe
NM_133378.4:c.73912A>T (TTN)	NP_596869.4:p.Ile24638Phe
NM_133432.3:c.54796A>T (TTN)	NP_597676.3:p.Ile18266Phe
NM_133437.4:c.54997A>T (TTN)	NP_597681.4:p.Ile18333Phe
NR_038271.1:n.447-6784T>A (TTN-AS1)
NR_038272.1:n.2044-18056T>A (TTN-AS1)
XM_011511729.1:c.80713A>T (TTN)	XP_011510031.1:p.Ile26905Phe
XM_011511730.1:c.54607A>T (TTN)	XP_011510032.1:p.Ile18203Phe
XM_011511731.1:c.54466A>T (TTN)	XP_011510033.1:p.Ile18156Phe
XM_017004819.1:c.80509A>T (TTN)	XP_016860308.1:p.Ile26837Phe
XM_017004820.1:c.75907A>T (TTN)	XP_016860309.1:p.Ile25303Phe
XM_017004821.1:c.75904A>T (TTN)	XP_016860310.1:p.Ile25302Phe
XM_017004822.1:c.72946A>T (TTN)	XP_016860311.1:p.Ile24316Phe
XM_017004823.1:c.54562A>T (TTN)	XP_016860312.1:p.Ile18188Phe
XM_024453094.1:c.76057A>T (TTN)	XP_024308862.1:p.Ile25353Phe
XM_024453095.1:c.76054A>T (TTN)	XP_024308863.1:p.Ile25352Phe
XM_024453096.1:c.75487A>T (TTN)	XP_024308864.1:p.Ile25163Phe
XM_024453097.1:c.72829A>T (TTN)	XP_024308865.1:p.Ile24277Phe
XM_024453098.1:c.72748A>T (TTN)	XP_024308866.1:p.Ile24250Phe
XM_024453099.1:c.54511A>T (TTN)	XP_024308867.1:p.Ile18171Phe
XM_024453100.1:c.44365A>T (TTN)	XP_024308868.1:p.Ile14789Phe