Canonical Allele Identifier: CA349471446

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179411485A>C (hg19) ; chr2:g.178546758A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546758A>C , CM000664.2:g.178546758A>C	GRCh38
NC_000002.11:g.179411485A>C , CM000664.1:g.179411485A>C	GRCh37
NC_000002.10:g.179119731A>C	NCBI36
NG_011618.3:g.289045T>G , LRG_391:g.289045T>G
NG_051363.1:g.28932A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86966T>G (TTN)	ENSP00000343764.6:p.Leu28989Arg
ENST00000342175.11:c.68051T>G (TTN)	ENSP00000340554.6:p.Leu22684Arg
ENST00000359218.10:c.67850T>G (TTN)	ENSP00000352154.5:p.Leu22617Arg
ENST00000342175.10:c.68051T>G (TTN)	ENSP00000340554.6:p.Leu22684Arg
ENST00000342992.10:c.86966T>G (TTN)	ENSP00000343764.6:p.Leu28989Arg
ENST00000359218.9:c.67850T>G (TTN)	ENSP00000352154.5:p.Leu22617Arg
ENST00000460472.6:c.67475T>G (TTN)	ENSP00000434586.1:p.Leu22492Arg
ENST00000589042.5:c.94670T>G (TTN) MANE Select	ENSP00000467141.1:p.Leu31557Arg
ENST00000591111.5:c.89747T>G (TTN)	ENSP00000465570.1:p.Leu29916Arg
ENST00000615779.4:c.89747T>G (TTN)	ENSP00000483597.1:p.Leu29916Arg
NM_001256850.1:c.89747T>G (TTN)	NP_001243779.1:p.Leu29916Arg
NM_001267550.2:c.94670T>G (TTN) MANE Select	NP_001254479.2:p.Leu31557Arg
NM_003319.4:c.67475T>G (TTN)	NP_003310.4:p.Leu22492Arg
NM_133378.4:c.86966T>G (TTN)	NP_596869.4:p.Leu28989Arg
NM_133432.3:c.67850T>G (TTN)	NP_597676.3:p.Leu22617Arg
NM_133437.4:c.68051T>G (TTN)	NP_597681.4:p.Leu22684Arg
NR_038271.1:n.446+23122A>C (TTN-AS1)
NR_038272.1:n.2043+4397A>C (TTN-AS1)
XM_011511729.1:c.93767T>G (TTN)	XP_011510031.1:p.Leu31256Arg
XM_011511730.1:c.67661T>G (TTN)	XP_011510032.1:p.Leu22554Arg
XM_011511731.1:c.67520T>G (TTN)	XP_011510033.1:p.Leu22507Arg
XM_017004819.1:c.93563T>G (TTN)	XP_016860308.1:p.Leu31188Arg
XM_017004820.1:c.88961T>G (TTN)	XP_016860309.1:p.Leu29654Arg
XM_017004821.1:c.88958T>G (TTN)	XP_016860310.1:p.Leu29653Arg
XM_017004822.1:c.86000T>G (TTN)	XP_016860311.1:p.Leu28667Arg
XM_017004823.1:c.67616T>G (TTN)	XP_016860312.1:p.Leu22539Arg
XM_024453094.1:c.89111T>G (TTN)	XP_024308862.1:p.Leu29704Arg
XM_024453095.1:c.89108T>G (TTN)	XP_024308863.1:p.Leu29703Arg
XM_024453096.1:c.88541T>G (TTN)	XP_024308864.1:p.Leu29514Arg
XM_024453097.1:c.85883T>G (TTN)	XP_024308865.1:p.Leu28628Arg
XM_024453098.1:c.85802T>G (TTN)	XP_024308866.1:p.Leu28601Arg
XM_024453099.1:c.67565T>G (TTN)	XP_024308867.1:p.Leu22522Arg
XM_024453100.1:c.57419T>G (TTN)	XP_024308868.1:p.Leu19140Arg