Canonical Allele Identifier: CA349502643

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179416378T>A (hg19) ; chr2:g.178551651T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551651T>A , CM000664.2:g.178551651T>A	GRCh38
NC_000002.11:g.179416378T>A , CM000664.1:g.179416378T>A	GRCh37
NC_000002.10:g.179124624T>A	NCBI36
NG_011618.3:g.284152A>T , LRG_391:g.284152A>T
NG_051363.1:g.33825T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.83545A>T (TTN)	ENSP00000343764.6:p.Thr27849Ser
ENST00000342175.11:c.64630A>T (TTN)	ENSP00000340554.6:p.Thr21544Ser
ENST00000359218.10:c.64429A>T (TTN)	ENSP00000352154.5:p.Thr21477Ser
ENST00000342175.10:c.64630A>T (TTN)	ENSP00000340554.6:p.Thr21544Ser
ENST00000342992.10:c.83545A>T (TTN)	ENSP00000343764.6:p.Thr27849Ser
ENST00000359218.9:c.64429A>T (TTN)	ENSP00000352154.5:p.Thr21477Ser
ENST00000460472.6:c.64054A>T (TTN)	ENSP00000434586.1:p.Thr21352Ser
ENST00000589042.5:c.91249A>T (TTN) MANE Select	ENSP00000467141.1:p.Thr30417Ser
ENST00000591111.5:c.86326A>T (TTN)	ENSP00000465570.1:p.Thr28776Ser
ENST00000615779.4:c.86326A>T (TTN)	ENSP00000483597.1:p.Thr28776Ser
NM_001256850.1:c.86326A>T (TTN)	NP_001243779.1:p.Thr28776Ser
NM_001267550.2:c.91249A>T (TTN) MANE Select	NP_001254479.2:p.Thr30417Ser
NM_003319.4:c.64054A>T (TTN)	NP_003310.4:p.Thr21352Ser
NM_133378.4:c.83545A>T (TTN)	NP_596869.4:p.Thr27849Ser
NM_133432.3:c.64429A>T (TTN)	NP_597676.3:p.Thr21477Ser
NM_133437.4:c.64630A>T (TTN)	NP_597681.4:p.Thr21544Ser
NR_038271.1:n.447-19649T>A (TTN-AS1)
NR_038272.1:n.2043+9290T>A (TTN-AS1)
XM_011511729.1:c.90346A>T (TTN)	XP_011510031.1:p.Thr30116Ser
XM_011511730.1:c.64240A>T (TTN)	XP_011510032.1:p.Thr21414Ser
XM_011511731.1:c.64099A>T (TTN)	XP_011510033.1:p.Thr21367Ser
XM_017004819.1:c.90142A>T (TTN)	XP_016860308.1:p.Thr30048Ser
XM_017004820.1:c.85540A>T (TTN)	XP_016860309.1:p.Thr28514Ser
XM_017004821.1:c.85537A>T (TTN)	XP_016860310.1:p.Thr28513Ser
XM_017004822.1:c.82579A>T (TTN)	XP_016860311.1:p.Thr27527Ser
XM_017004823.1:c.64195A>T (TTN)	XP_016860312.1:p.Thr21399Ser
XM_024453094.1:c.85690A>T (TTN)	XP_024308862.1:p.Thr28564Ser
XM_024453095.1:c.85687A>T (TTN)	XP_024308863.1:p.Thr28563Ser
XM_024453096.1:c.85120A>T (TTN)	XP_024308864.1:p.Thr28374Ser
XM_024453097.1:c.82462A>T (TTN)	XP_024308865.1:p.Thr27488Ser
XM_024453098.1:c.82381A>T (TTN)	XP_024308866.1:p.Thr27461Ser
XM_024453099.1:c.64144A>T (TTN)	XP_024308867.1:p.Thr21382Ser
XM_024453100.1:c.53998A>T (TTN)	XP_024308868.1:p.Thr18000Ser