Canonical Allele Identifier: CA349535049

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179422437T>G (hg19) ; chr2:g.178557710T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178557710T>G , CM000664.2:g.178557710T>G	GRCh38
NC_000002.11:g.179422437T>G , CM000664.1:g.179422437T>G	GRCh37
NC_000002.10:g.179130683T>G	NCBI36
NG_011618.3:g.278093A>C , LRG_391:g.278093A>C
NG_051363.1:g.39884T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.79940A>C (TTN)	ENSP00000343764.6:p.Glu26647Ala
ENST00000342175.11:c.61025A>C (TTN)	ENSP00000340554.6:p.Glu20342Ala
ENST00000359218.10:c.60824A>C (TTN)	ENSP00000352154.5:p.Glu20275Ala
ENST00000342175.10:c.61025A>C (TTN)	ENSP00000340554.6:p.Glu20342Ala
ENST00000342992.10:c.79940A>C (TTN)	ENSP00000343764.6:p.Glu26647Ala
ENST00000359218.9:c.60824A>C (TTN)	ENSP00000352154.5:p.Glu20275Ala
ENST00000460472.6:c.60449A>C (TTN)	ENSP00000434586.1:p.Glu20150Ala
ENST00000589042.5:c.87644A>C (TTN) MANE Select	ENSP00000467141.1:p.Glu29215Ala
ENST00000591111.5:c.82721A>C (TTN)	ENSP00000465570.1:p.Glu27574Ala
ENST00000615779.4:c.82721A>C (TTN)	ENSP00000483597.1:p.Glu27574Ala
NM_001256850.1:c.82721A>C (TTN)	NP_001243779.1:p.Glu27574Ala
NM_001267550.2:c.87644A>C (TTN) MANE Select	NP_001254479.2:p.Glu29215Ala
NM_003319.4:c.60449A>C (TTN)	NP_003310.4:p.Glu20150Ala
NM_133378.4:c.79940A>C (TTN)	NP_596869.4:p.Glu26647Ala
NM_133432.3:c.60824A>C (TTN)	NP_597676.3:p.Glu20275Ala
NM_133437.4:c.61025A>C (TTN)	NP_597681.4:p.Glu20342Ala
NR_038271.1:n.447-13590T>G (TTN-AS1)
NR_038272.1:n.2043+15349T>G (TTN-AS1)
XM_011511729.1:c.86741A>C (TTN)	XP_011510031.1:p.Glu28914Ala
XM_011511730.1:c.60635A>C (TTN)	XP_011510032.1:p.Glu20212Ala
XM_011511731.1:c.60494A>C (TTN)	XP_011510033.1:p.Glu20165Ala
XM_017004819.1:c.86537A>C (TTN)	XP_016860308.1:p.Glu28846Ala
XM_017004820.1:c.81935A>C (TTN)	XP_016860309.1:p.Glu27312Ala
XM_017004821.1:c.81932A>C (TTN)	XP_016860310.1:p.Glu27311Ala
XM_017004822.1:c.78974A>C (TTN)	XP_016860311.1:p.Glu26325Ala
XM_017004823.1:c.60590A>C (TTN)	XP_016860312.1:p.Glu20197Ala
XM_024453094.1:c.82085A>C (TTN)	XP_024308862.1:p.Glu27362Ala
XM_024453095.1:c.82082A>C (TTN)	XP_024308863.1:p.Glu27361Ala
XM_024453096.1:c.81515A>C (TTN)	XP_024308864.1:p.Glu27172Ala
XM_024453097.1:c.78857A>C (TTN)	XP_024308865.1:p.Glu26286Ala
XM_024453098.1:c.78776A>C (TTN)	XP_024308866.1:p.Glu26259Ala
XM_024453099.1:c.60539A>C (TTN)	XP_024308867.1:p.Glu20180Ala
XM_024453100.1:c.50393A>C (TTN)	XP_024308868.1:p.Glu16798Ala