Canonical Allele Identifier: CA349446139

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178543309-C-T
• MyVariant Identifiers: chr2:g.179408036C>T (hg19) ; chr2:g.178543309C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543309C>T , CM000664.2:g.178543309C>T	GRCh38
NC_000002.11:g.179408036C>T , CM000664.1:g.179408036C>T	GRCh37
NC_000002.10:g.179116282C>T	NCBI36
NG_011618.3:g.292494G>A , LRG_391:g.292494G>A
NG_051363.1:g.25483C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88960G>A (TTN)	ENSP00000343764.6:p.Ala29654Thr
ENST00000342175.11:c.70045G>A (TTN)	ENSP00000340554.6:p.Ala23349Thr
ENST00000359218.10:c.69844G>A (TTN)	ENSP00000352154.5:p.Ala23282Thr
ENST00000342175.10:c.70045G>A (TTN)	ENSP00000340554.6:p.Ala23349Thr
ENST00000342992.10:c.88960G>A (TTN)	ENSP00000343764.6:p.Ala29654Thr
ENST00000359218.9:c.69844G>A (TTN)	ENSP00000352154.5:p.Ala23282Thr
ENST00000460472.6:c.69469G>A (TTN)	ENSP00000434586.1:p.Ala23157Thr
ENST00000589042.5:c.96664G>A (TTN) MANE Select	ENSP00000467141.1:p.Ala32222Thr
ENST00000591111.5:c.91741G>A (TTN)	ENSP00000465570.1:p.Ala30581Thr
ENST00000615779.4:c.91741G>A (TTN)	ENSP00000483597.1:p.Ala30581Thr
NM_001256850.1:c.91741G>A (TTN)	NP_001243779.1:p.Ala30581Thr
NM_001267550.2:c.96664G>A (TTN) MANE Select	NP_001254479.2:p.Ala32222Thr
NM_003319.4:c.69469G>A (TTN)	NP_003310.4:p.Ala23157Thr
NM_133378.4:c.88960G>A (TTN)	NP_596869.4:p.Ala29654Thr
NM_133432.3:c.69844G>A (TTN)	NP_597676.3:p.Ala23282Thr
NM_133437.4:c.70045G>A (TTN)	NP_597681.4:p.Ala23349Thr
NR_038271.1:n.446+19673C>T (TTN-AS1)
NR_038272.1:n.2043+948C>T (TTN-AS1)
XM_011511729.1:c.95761G>A (TTN)	XP_011510031.1:p.Ala31921Thr
XM_011511730.1:c.69655G>A (TTN)	XP_011510032.1:p.Ala23219Thr
XM_011511731.1:c.69514G>A (TTN)	XP_011510033.1:p.Ala23172Thr
XM_017004819.1:c.95557G>A (TTN)	XP_016860308.1:p.Ala31853Thr
XM_017004820.1:c.90955G>A (TTN)	XP_016860309.1:p.Ala30319Thr
XM_017004821.1:c.90952G>A (TTN)	XP_016860310.1:p.Ala30318Thr
XM_017004822.1:c.87994G>A (TTN)	XP_016860311.1:p.Ala29332Thr
XM_017004823.1:c.69610G>A (TTN)	XP_016860312.1:p.Ala23204Thr
XM_024453094.1:c.91105G>A (TTN)	XP_024308862.1:p.Ala30369Thr
XM_024453095.1:c.91102G>A (TTN)	XP_024308863.1:p.Ala30368Thr
XM_024453096.1:c.90535G>A (TTN)	XP_024308864.1:p.Ala30179Thr
XM_024453097.1:c.87877G>A (TTN)	XP_024308865.1:p.Ala29293Thr
XM_024453098.1:c.87796G>A (TTN)	XP_024308866.1:p.Ala29266Thr
XM_024453099.1:c.69559G>A (TTN)	XP_024308867.1:p.Ala23187Thr
XM_024453100.1:c.59413G>A (TTN)	XP_024308868.1:p.Ala19805Thr