Canonical Allele Identifier: CA349457177

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178544410-T-A
• MyVariant Identifiers: chr2:g.179409137T>A (hg19) ; chr2:g.178544410T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544410T>A , CM000664.2:g.178544410T>A	GRCh38
NC_000002.11:g.179409137T>A , CM000664.1:g.179409137T>A	GRCh37
NC_000002.10:g.179117383T>A	NCBI36
NG_011618.3:g.291393A>T , LRG_391:g.291393A>T
NG_051363.1:g.26584T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.88115A>T (TTN)	ENSP00000343764.6:p.Asp29372Val
ENST00000342175.11:c.69200A>T (TTN)	ENSP00000340554.6:p.Asp23067Val
ENST00000359218.10:c.68999A>T (TTN)	ENSP00000352154.5:p.Asp23000Val
ENST00000342175.10:c.69200A>T (TTN)	ENSP00000340554.6:p.Asp23067Val
ENST00000342992.10:c.88115A>T (TTN)	ENSP00000343764.6:p.Asp29372Val
ENST00000359218.9:c.68999A>T (TTN)	ENSP00000352154.5:p.Asp23000Val
ENST00000460472.6:c.68624A>T (TTN)	ENSP00000434586.1:p.Asp22875Val
ENST00000589042.5:c.95819A>T (TTN) MANE Select	ENSP00000467141.1:p.Asp31940Val
ENST00000591111.5:c.90896A>T (TTN)	ENSP00000465570.1:p.Asp30299Val
ENST00000615779.4:c.90896A>T (TTN)	ENSP00000483597.1:p.Asp30299Val
NM_001256850.1:c.90896A>T (TTN)	NP_001243779.1:p.Asp30299Val
NM_001267550.2:c.95819A>T (TTN) MANE Select	NP_001254479.2:p.Asp31940Val
NM_003319.4:c.68624A>T (TTN)	NP_003310.4:p.Asp22875Val
NM_133378.4:c.88115A>T (TTN)	NP_596869.4:p.Asp29372Val
NM_133432.3:c.68999A>T (TTN)	NP_597676.3:p.Asp23000Val
NM_133437.4:c.69200A>T (TTN)	NP_597681.4:p.Asp23067Val
NR_038271.1:n.446+20774T>A (TTN-AS1)
NR_038272.1:n.2043+2049T>A (TTN-AS1)
XM_011511729.1:c.94916A>T (TTN)	XP_011510031.1:p.Asp31639Val
XM_011511730.1:c.68810A>T (TTN)	XP_011510032.1:p.Asp22937Val
XM_011511731.1:c.68669A>T (TTN)	XP_011510033.1:p.Asp22890Val
XM_017004819.1:c.94712A>T (TTN)	XP_016860308.1:p.Asp31571Val
XM_017004820.1:c.90110A>T (TTN)	XP_016860309.1:p.Asp30037Val
XM_017004821.1:c.90107A>T (TTN)	XP_016860310.1:p.Asp30036Val
XM_017004822.1:c.87149A>T (TTN)	XP_016860311.1:p.Asp29050Val
XM_017004823.1:c.68765A>T (TTN)	XP_016860312.1:p.Asp22922Val
XM_024453094.1:c.90260A>T (TTN)	XP_024308862.1:p.Asp30087Val
XM_024453095.1:c.90257A>T (TTN)	XP_024308863.1:p.Asp30086Val
XM_024453096.1:c.89690A>T (TTN)	XP_024308864.1:p.Asp29897Val
XM_024453097.1:c.87032A>T (TTN)	XP_024308865.1:p.Asp29011Val
XM_024453098.1:c.86951A>T (TTN)	XP_024308866.1:p.Asp28984Val
XM_024453099.1:c.68714A>T (TTN)	XP_024308867.1:p.Asp22905Val
XM_024453100.1:c.58568A>T (TTN)	XP_024308868.1:p.Asp19523Val