Canonical Allele Identifier: CA349562676

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178562080-T-C
• MyVariant Identifiers: chr2:g.179426807T>C (hg19) ; chr2:g.178562080T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178562080T>C , CM000664.2:g.178562080T>C	GRCh38
NC_000002.11:g.179426807T>C , CM000664.1:g.179426807T>C	GRCh37
NC_000002.10:g.179135053T>C	NCBI36
NG_011618.3:g.273723A>G , LRG_391:g.273723A>G
NG_051363.1:g.44254T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.76348A>G (TTN)	ENSP00000343764.6:p.Thr25450Ala
ENST00000342175.11:c.57433A>G (TTN)	ENSP00000340554.6:p.Thr19145Ala
ENST00000359218.10:c.57232A>G (TTN)	ENSP00000352154.5:p.Thr19078Ala
ENST00000342175.10:c.57433A>G (TTN)	ENSP00000340554.6:p.Thr19145Ala
ENST00000342992.10:c.76348A>G (TTN)	ENSP00000343764.6:p.Thr25450Ala
ENST00000359218.9:c.57232A>G (TTN)	ENSP00000352154.5:p.Thr19078Ala
ENST00000460472.6:c.56857A>G (TTN)	ENSP00000434586.1:p.Thr18953Ala
ENST00000589042.5:c.84052A>G (TTN) MANE Select	ENSP00000467141.1:p.Thr28018Ala
ENST00000591111.5:c.79129A>G (TTN)	ENSP00000465570.1:p.Thr26377Ala
ENST00000615779.4:c.79129A>G (TTN)	ENSP00000483597.1:p.Thr26377Ala
NM_001256850.1:c.79129A>G (TTN)	NP_001243779.1:p.Thr26377Ala
NM_001267550.2:c.84052A>G (TTN) MANE Select	NP_001254479.2:p.Thr28018Ala
NM_003319.4:c.56857A>G (TTN)	NP_003310.4:p.Thr18953Ala
NM_133378.4:c.76348A>G (TTN)	NP_596869.4:p.Thr25450Ala
NM_133432.3:c.57232A>G (TTN)	NP_597676.3:p.Thr19078Ala
NM_133437.4:c.57433A>G (TTN)	NP_597681.4:p.Thr19145Ala
NR_038271.1:n.447-9220T>C (TTN-AS1)
NR_038272.1:n.2043+19719T>C (TTN-AS1)
XM_011511729.1:c.83149A>G (TTN)	XP_011510031.1:p.Thr27717Ala
XM_011511730.1:c.57043A>G (TTN)	XP_011510032.1:p.Thr19015Ala
XM_011511731.1:c.56902A>G (TTN)	XP_011510033.1:p.Thr18968Ala
XM_017004819.1:c.82945A>G (TTN)	XP_016860308.1:p.Thr27649Ala
XM_017004820.1:c.78343A>G (TTN)	XP_016860309.1:p.Thr26115Ala
XM_017004821.1:c.78340A>G (TTN)	XP_016860310.1:p.Thr26114Ala
XM_017004822.1:c.75382A>G (TTN)	XP_016860311.1:p.Thr25128Ala
XM_017004823.1:c.56998A>G (TTN)	XP_016860312.1:p.Thr19000Ala
XM_024453094.1:c.78493A>G (TTN)	XP_024308862.1:p.Thr26165Ala
XM_024453095.1:c.78490A>G (TTN)	XP_024308863.1:p.Thr26164Ala
XM_024453096.1:c.77923A>G (TTN)	XP_024308864.1:p.Thr25975Ala
XM_024453097.1:c.75265A>G (TTN)	XP_024308865.1:p.Thr25089Ala
XM_024453098.1:c.75184A>G (TTN)	XP_024308866.1:p.Thr25062Ala
XM_024453099.1:c.56947A>G (TTN)	XP_024308867.1:p.Thr18983Ala
XM_024453100.1:c.46801A>G (TTN)	XP_024308868.1:p.Thr15601Ala