Canonical Allele Identifier: CA349535006

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178557700-A-C
• MyVariant Identifiers: chr2:g.179422427A>C (hg19) ; chr2:g.178557700A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178557700A>C , CM000664.2:g.178557700A>C	GRCh38
NC_000002.11:g.179422427A>C , CM000664.1:g.179422427A>C	GRCh37
NC_000002.10:g.179130673A>C	NCBI36
NG_011618.3:g.278103T>G , LRG_391:g.278103T>G
NG_051363.1:g.39874A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.79950T>G (TTN)	ENSP00000343764.6:p.Phe26650Leu
ENST00000342175.11:c.61035T>G (TTN)	ENSP00000340554.6:p.Phe20345Leu
ENST00000359218.10:c.60834T>G (TTN)	ENSP00000352154.5:p.Phe20278Leu
ENST00000342175.10:c.61035T>G (TTN)	ENSP00000340554.6:p.Phe20345Leu
ENST00000342992.10:c.79950T>G (TTN)	ENSP00000343764.6:p.Phe26650Leu
ENST00000359218.9:c.60834T>G (TTN)	ENSP00000352154.5:p.Phe20278Leu
ENST00000460472.6:c.60459T>G (TTN)	ENSP00000434586.1:p.Phe20153Leu
ENST00000589042.5:c.87654T>G (TTN) MANE Select	ENSP00000467141.1:p.Phe29218Leu
ENST00000591111.5:c.82731T>G (TTN)	ENSP00000465570.1:p.Phe27577Leu
ENST00000615779.4:c.82731T>G (TTN)	ENSP00000483597.1:p.Phe27577Leu
NM_001256850.1:c.82731T>G (TTN)	NP_001243779.1:p.Phe27577Leu
NM_001267550.2:c.87654T>G (TTN) MANE Select	NP_001254479.2:p.Phe29218Leu
NM_003319.4:c.60459T>G (TTN)	NP_003310.4:p.Phe20153Leu
NM_133378.4:c.79950T>G (TTN)	NP_596869.4:p.Phe26650Leu
NM_133432.3:c.60834T>G (TTN)	NP_597676.3:p.Phe20278Leu
NM_133437.4:c.61035T>G (TTN)	NP_597681.4:p.Phe20345Leu
NR_038271.1:n.447-13600A>C (TTN-AS1)
NR_038272.1:n.2043+15339A>C (TTN-AS1)
XM_011511729.1:c.86751T>G (TTN)	XP_011510031.1:p.Phe28917Leu
XM_011511730.1:c.60645T>G (TTN)	XP_011510032.1:p.Phe20215Leu
XM_011511731.1:c.60504T>G (TTN)	XP_011510033.1:p.Phe20168Leu
XM_017004819.1:c.86547T>G (TTN)	XP_016860308.1:p.Phe28849Leu
XM_017004820.1:c.81945T>G (TTN)	XP_016860309.1:p.Phe27315Leu
XM_017004821.1:c.81942T>G (TTN)	XP_016860310.1:p.Phe27314Leu
XM_017004822.1:c.78984T>G (TTN)	XP_016860311.1:p.Phe26328Leu
XM_017004823.1:c.60600T>G (TTN)	XP_016860312.1:p.Phe20200Leu
XM_024453094.1:c.82095T>G (TTN)	XP_024308862.1:p.Phe27365Leu
XM_024453095.1:c.82092T>G (TTN)	XP_024308863.1:p.Phe27364Leu
XM_024453096.1:c.81525T>G (TTN)	XP_024308864.1:p.Phe27175Leu
XM_024453097.1:c.78867T>G (TTN)	XP_024308865.1:p.Phe26289Leu
XM_024453098.1:c.78786T>G (TTN)	XP_024308866.1:p.Phe26262Leu
XM_024453099.1:c.60549T>G (TTN)	XP_024308867.1:p.Phe20183Leu
XM_024453100.1:c.50403T>G (TTN)	XP_024308868.1:p.Phe16801Leu