Canonical Allele Identifier: CA349405226

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179394770T>A (hg19) ; chr2:g.178530043T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530043T>A , CM000664.2:g.178530043T>A	GRCh38
NC_000002.11:g.179394770T>A , CM000664.1:g.179394770T>A	GRCh37
NC_000002.10:g.179103016T>A	NCBI36
NG_011618.3:g.305760A>T , LRG_391:g.305760A>T
NG_051363.1:g.12217T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98744A>T (TTN)	ENSP00000343764.6:p.Asp32915Val
ENST00000342175.11:c.79829A>T (TTN)	ENSP00000340554.6:p.Asp26610Val
ENST00000359218.10:c.79628A>T (TTN)	ENSP00000352154.5:p.Asp26543Val
ENST00000342175.10:c.79829A>T (TTN)	ENSP00000340554.6:p.Asp26610Val
ENST00000342992.10:c.98744A>T (TTN)	ENSP00000343764.6:p.Asp32915Val
ENST00000359218.9:c.79628A>T (TTN)	ENSP00000352154.5:p.Asp26543Val
ENST00000460472.6:c.79253A>T (TTN)	ENSP00000434586.1:p.Asp26418Val
ENST00000589042.5:c.106448A>T (TTN) MANE Select	ENSP00000467141.1:p.Asp35483Val
ENST00000591111.5:c.101525A>T (TTN)	ENSP00000465570.1:p.Asp33842Val
ENST00000615779.4:c.101525A>T (TTN)	ENSP00000483597.1:p.Asp33842Val
NM_001256850.1:c.101525A>T (TTN)	NP_001243779.1:p.Asp33842Val
NM_001267550.2:c.106448A>T (TTN) MANE Select	NP_001254479.2:p.Asp35483Val
NM_003319.4:c.79253A>T (TTN)	NP_003310.4:p.Asp26418Val
NM_133378.4:c.98744A>T (TTN)	NP_596869.4:p.Asp32915Val
NM_133432.3:c.79628A>T (TTN)	NP_597676.3:p.Asp26543Val
NM_133437.4:c.79829A>T (TTN)	NP_597681.4:p.Asp26610Val
NR_038271.1:n.446+6407T>A (TTN-AS1)
NR_038272.1:n.220-5689T>A (TTN-AS1)
XM_011511729.1:c.105545A>T (TTN)	XP_011510031.1:p.Asp35182Val
XM_011511730.1:c.79439A>T (TTN)	XP_011510032.1:p.Asp26480Val
XM_011511731.1:c.79298A>T (TTN)	XP_011510033.1:p.Asp26433Val
XM_017004819.1:c.105341A>T (TTN)	XP_016860308.1:p.Asp35114Val
XM_017004820.1:c.100739A>T (TTN)	XP_016860309.1:p.Asp33580Val
XM_017004821.1:c.100736A>T (TTN)	XP_016860310.1:p.Asp33579Val
XM_017004822.1:c.97778A>T (TTN)	XP_016860311.1:p.Asp32593Val
XM_017004823.1:c.79394A>T (TTN)	XP_016860312.1:p.Asp26465Val
XM_024453094.1:c.100889A>T (TTN)	XP_024308862.1:p.Asp33630Val
XM_024453095.1:c.100886A>T (TTN)	XP_024308863.1:p.Asp33629Val
XM_024453096.1:c.100319A>T (TTN)	XP_024308864.1:p.Asp33440Val
XM_024453097.1:c.97661A>T (TTN)	XP_024308865.1:p.Asp32554Val
XM_024453098.1:c.97580A>T (TTN)	XP_024308866.1:p.Asp32527Val
XM_024453099.1:c.79343A>T (TTN)	XP_024308867.1:p.Asp26448Val
XM_024453100.1:c.69197A>T (TTN)	XP_024308868.1:p.Asp23066Val