Canonical Allele Identifier: CA349503298

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179416461A>T (hg19) ; chr2:g.178551734A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551734A>T , CM000664.2:g.178551734A>T	GRCh38
NC_000002.11:g.179416461A>T , CM000664.1:g.179416461A>T	GRCh37
NC_000002.10:g.179124707A>T	NCBI36
NG_011618.3:g.284069T>A , LRG_391:g.284069T>A
NG_051363.1:g.33908A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.83462T>A (TTN)	ENSP00000343764.6:p.Leu27821Gln
ENST00000342175.11:c.64547T>A (TTN)	ENSP00000340554.6:p.Leu21516Gln
ENST00000359218.10:c.64346T>A (TTN)	ENSP00000352154.5:p.Leu21449Gln
ENST00000342175.10:c.64547T>A (TTN)	ENSP00000340554.6:p.Leu21516Gln
ENST00000342992.10:c.83462T>A (TTN)	ENSP00000343764.6:p.Leu27821Gln
ENST00000359218.9:c.64346T>A (TTN)	ENSP00000352154.5:p.Leu21449Gln
ENST00000460472.6:c.63971T>A (TTN)	ENSP00000434586.1:p.Leu21324Gln
ENST00000589042.5:c.91166T>A (TTN) MANE Select	ENSP00000467141.1:p.Leu30389Gln
ENST00000591111.5:c.86243T>A (TTN)	ENSP00000465570.1:p.Leu28748Gln
ENST00000615779.4:c.86243T>A (TTN)	ENSP00000483597.1:p.Leu28748Gln
NM_001256850.1:c.86243T>A (TTN)	NP_001243779.1:p.Leu28748Gln
NM_001267550.2:c.91166T>A (TTN) MANE Select	NP_001254479.2:p.Leu30389Gln
NM_003319.4:c.63971T>A (TTN)	NP_003310.4:p.Leu21324Gln
NM_133378.4:c.83462T>A (TTN)	NP_596869.4:p.Leu27821Gln
NM_133432.3:c.64346T>A (TTN)	NP_597676.3:p.Leu21449Gln
NM_133437.4:c.64547T>A (TTN)	NP_597681.4:p.Leu21516Gln
NR_038271.1:n.447-19566A>T (TTN-AS1)
NR_038272.1:n.2043+9373A>T (TTN-AS1)
XM_011511729.1:c.90263T>A (TTN)	XP_011510031.1:p.Leu30088Gln
XM_011511730.1:c.64157T>A (TTN)	XP_011510032.1:p.Leu21386Gln
XM_011511731.1:c.64016T>A (TTN)	XP_011510033.1:p.Leu21339Gln
XM_017004819.1:c.90059T>A (TTN)	XP_016860308.1:p.Leu30020Gln
XM_017004820.1:c.85457T>A (TTN)	XP_016860309.1:p.Leu28486Gln
XM_017004821.1:c.85454T>A (TTN)	XP_016860310.1:p.Leu28485Gln
XM_017004822.1:c.82496T>A (TTN)	XP_016860311.1:p.Leu27499Gln
XM_017004823.1:c.64112T>A (TTN)	XP_016860312.1:p.Leu21371Gln
XM_024453094.1:c.85607T>A (TTN)	XP_024308862.1:p.Leu28536Gln
XM_024453095.1:c.85604T>A (TTN)	XP_024308863.1:p.Leu28535Gln
XM_024453096.1:c.85037T>A (TTN)	XP_024308864.1:p.Leu28346Gln
XM_024453097.1:c.82379T>A (TTN)	XP_024308865.1:p.Leu27460Gln
XM_024453098.1:c.82298T>A (TTN)	XP_024308866.1:p.Leu27433Gln
XM_024453099.1:c.64061T>A (TTN)	XP_024308867.1:p.Leu21354Gln
XM_024453100.1:c.53915T>A (TTN)	XP_024308868.1:p.Leu17972Gln