Canonical Allele Identifier: CA349544169

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179424478T>G (hg19) ; chr2:g.178559751T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178559751T>G , CM000664.2:g.178559751T>G	GRCh38
NC_000002.11:g.179424478T>G , CM000664.1:g.179424478T>G	GRCh37
NC_000002.10:g.179132724T>G	NCBI36
NG_011618.3:g.276052A>C , LRG_391:g.276052A>C
NG_051363.1:g.41925T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.78677A>C (TTN)	ENSP00000343764.6:p.Asp26226Ala
ENST00000342175.11:c.59762A>C (TTN)	ENSP00000340554.6:p.Asp19921Ala
ENST00000359218.10:c.59561A>C (TTN)	ENSP00000352154.5:p.Asp19854Ala
ENST00000342175.10:c.59762A>C (TTN)	ENSP00000340554.6:p.Asp19921Ala
ENST00000342992.10:c.78677A>C (TTN)	ENSP00000343764.6:p.Asp26226Ala
ENST00000359218.9:c.59561A>C (TTN)	ENSP00000352154.5:p.Asp19854Ala
ENST00000460472.6:c.59186A>C (TTN)	ENSP00000434586.1:p.Asp19729Ala
ENST00000589042.5:c.86381A>C (TTN) MANE Select	ENSP00000467141.1:p.Asp28794Ala
ENST00000591111.5:c.81458A>C (TTN)	ENSP00000465570.1:p.Asp27153Ala
ENST00000615779.4:c.81458A>C (TTN)	ENSP00000483597.1:p.Asp27153Ala
NM_001256850.1:c.81458A>C (TTN)	NP_001243779.1:p.Asp27153Ala
NM_001267550.2:c.86381A>C (TTN) MANE Select	NP_001254479.2:p.Asp28794Ala
NM_003319.4:c.59186A>C (TTN)	NP_003310.4:p.Asp19729Ala
NM_133378.4:c.78677A>C (TTN)	NP_596869.4:p.Asp26226Ala
NM_133432.3:c.59561A>C (TTN)	NP_597676.3:p.Asp19854Ala
NM_133437.4:c.59762A>C (TTN)	NP_597681.4:p.Asp19921Ala
NR_038271.1:n.447-11549T>G (TTN-AS1)
NR_038272.1:n.2043+17390T>G (TTN-AS1)
XM_011511729.1:c.85478A>C (TTN)	XP_011510031.1:p.Asp28493Ala
XM_011511730.1:c.59372A>C (TTN)	XP_011510032.1:p.Asp19791Ala
XM_011511731.1:c.59231A>C (TTN)	XP_011510033.1:p.Asp19744Ala
XM_017004819.1:c.85274A>C (TTN)	XP_016860308.1:p.Asp28425Ala
XM_017004820.1:c.80672A>C (TTN)	XP_016860309.1:p.Asp26891Ala
XM_017004821.1:c.80669A>C (TTN)	XP_016860310.1:p.Asp26890Ala
XM_017004822.1:c.77711A>C (TTN)	XP_016860311.1:p.Asp25904Ala
XM_017004823.1:c.59327A>C (TTN)	XP_016860312.1:p.Asp19776Ala
XM_024453094.1:c.80822A>C (TTN)	XP_024308862.1:p.Asp26941Ala
XM_024453095.1:c.80819A>C (TTN)	XP_024308863.1:p.Asp26940Ala
XM_024453096.1:c.80252A>C (TTN)	XP_024308864.1:p.Asp26751Ala
XM_024453097.1:c.77594A>C (TTN)	XP_024308865.1:p.Asp25865Ala
XM_024453098.1:c.77513A>C (TTN)	XP_024308866.1:p.Asp25838Ala
XM_024453099.1:c.59276A>C (TTN)	XP_024308867.1:p.Asp19759Ala
XM_024453100.1:c.49130A>C (TTN)	XP_024308868.1:p.Asp16377Ala