Canonical Allele Identifier: CA349496554

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178593053-G-A
• MyVariant Identifiers: chr2:g.179457780G>A (hg19) ; chr2:g.178593053G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593053G>A , CM000664.2:g.178593053G>A	GRCh38
NC_000002.11:g.179457780G>A , CM000664.1:g.179457780G>A	GRCh37
NC_000002.10:g.179166026G>A	NCBI36
NG_011618.3:g.242750C>T , LRG_391:g.242750C>T
NG_051363.1:g.75227G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51362C>T (TTN)	ENSP00000343764.6:p.Ala17121Val
ENST00000342175.11:c.32447C>T (TTN)	ENSP00000340554.6:p.Ala10816Val
ENST00000359218.10:c.32246C>T (TTN)	ENSP00000352154.5:p.Ala10749Val
ENST00000342175.10:c.32447C>T (TTN)	ENSP00000340554.6:p.Ala10816Val
ENST00000342992.10:c.51362C>T (TTN)	ENSP00000343764.6:p.Ala17121Val
ENST00000359218.9:c.32246C>T (TTN)	ENSP00000352154.5:p.Ala10749Val
ENST00000460472.6:c.31871C>T (TTN)	ENSP00000434586.1:p.Ala10624Val
ENST00000589042.5:c.59066C>T (TTN) MANE Select	ENSP00000467141.1:p.Ala19689Val
ENST00000591111.5:c.54143C>T (TTN)	ENSP00000465570.1:p.Ala18048Val
ENST00000615779.4:c.54143C>T (TTN)	ENSP00000483597.1:p.Ala18048Val
NM_001256850.1:c.54143C>T (TTN)	NP_001243779.1:p.Ala18048Val
NM_001267550.2:c.59066C>T (TTN) MANE Select	NP_001254479.2:p.Ala19689Val
NM_003319.4:c.31871C>T (TTN)	NP_003310.4:p.Ala10624Val
NM_133378.4:c.51362C>T (TTN)	NP_596869.4:p.Ala17121Val
NM_133432.3:c.32246C>T (TTN)	NP_597676.3:p.Ala10749Val
NM_133437.4:c.32447C>T (TTN)	NP_597681.4:p.Ala10816Val
NR_038271.1:n.597-4543G>A (TTN-AS1)
NR_038272.1:n.3364+1739G>A (TTN-AS1)
XM_011511729.1:c.58163C>T (TTN)	XP_011510031.1:p.Ala19388Val
XM_011511730.1:c.32057C>T (TTN)	XP_011510032.1:p.Ala10686Val
XM_011511731.1:c.31916C>T (TTN)	XP_011510033.1:p.Ala10639Val
XM_017004819.1:c.57959C>T (TTN)	XP_016860308.1:p.Ala19320Val
XM_017004820.1:c.53357C>T (TTN)	XP_016860309.1:p.Ala17786Val
XM_017004821.1:c.53354C>T (TTN)	XP_016860310.1:p.Ala17785Val
XM_017004822.1:c.50396C>T (TTN)	XP_016860311.1:p.Ala16799Val
XM_017004823.1:c.32012C>T (TTN)	XP_016860312.1:p.Ala10671Val
XM_024453094.1:c.53507C>T (TTN)	XP_024308862.1:p.Ala17836Val
XM_024453095.1:c.53504C>T (TTN)	XP_024308863.1:p.Ala17835Val
XM_024453096.1:c.52937C>T (TTN)	XP_024308864.1:p.Ala17646Val
XM_024453097.1:c.50279C>T (TTN)	XP_024308865.1:p.Ala16760Val
XM_024453098.1:c.50198C>T (TTN)	XP_024308866.1:p.Ala16733Val
XM_024453099.1:c.31961C>T (TTN)	XP_024308867.1:p.Ala10654Val
XM_024453100.1:c.21815C>T (TTN)	XP_024308868.1:p.Ala7272Val