Canonical Allele Identifier: CA349612424

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178569013-C-A
• MyVariant Identifiers: chr2:g.179433740C>A (hg19) ; chr2:g.178569013C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569013C>A , CM000664.2:g.178569013C>A	GRCh38
NC_000002.11:g.179433740C>A , CM000664.1:g.179433740C>A	GRCh37
NC_000002.10:g.179141986C>A	NCBI36
NG_011618.3:g.266790G>T , LRG_391:g.266790G>T
NG_051363.1:g.51187C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69415G>T (TTN)	ENSP00000343764.6:p.Val23139Leu
ENST00000342175.11:c.50500G>T (TTN)	ENSP00000340554.6:p.Val16834Leu
ENST00000359218.10:c.50299G>T (TTN)	ENSP00000352154.5:p.Val16767Leu
ENST00000342175.10:c.50500G>T (TTN)	ENSP00000340554.6:p.Val16834Leu
ENST00000342992.10:c.69415G>T (TTN)	ENSP00000343764.6:p.Val23139Leu
ENST00000359218.9:c.50299G>T (TTN)	ENSP00000352154.5:p.Val16767Leu
ENST00000460472.6:c.49924G>T (TTN)	ENSP00000434586.1:p.Val16642Leu
ENST00000589042.5:c.77119G>T (TTN) MANE Select	ENSP00000467141.1:p.Val25707Leu
ENST00000591111.5:c.72196G>T (TTN)	ENSP00000465570.1:p.Val24066Leu
ENST00000615779.4:c.72196G>T (TTN)	ENSP00000483597.1:p.Val24066Leu
NM_001256850.1:c.72196G>T (TTN)	NP_001243779.1:p.Val24066Leu
NM_001267550.2:c.77119G>T (TTN) MANE Select	NP_001254479.2:p.Val25707Leu
NM_003319.4:c.49924G>T (TTN)	NP_003310.4:p.Val16642Leu
NM_133378.4:c.69415G>T (TTN)	NP_596869.4:p.Val23139Leu
NM_133432.3:c.50299G>T (TTN)	NP_597676.3:p.Val16767Leu
NM_133437.4:c.50500G>T (TTN)	NP_597681.4:p.Val16834Leu
NR_038271.1:n.447-2287C>A (TTN-AS1)
NR_038272.1:n.2044-13559C>A (TTN-AS1)
XM_011511729.1:c.76216G>T (TTN)	XP_011510031.1:p.Val25406Leu
XM_011511730.1:c.50110G>T (TTN)	XP_011510032.1:p.Val16704Leu
XM_011511731.1:c.49969G>T (TTN)	XP_011510033.1:p.Val16657Leu
XM_017004819.1:c.76012G>T (TTN)	XP_016860308.1:p.Val25338Leu
XM_017004820.1:c.71410G>T (TTN)	XP_016860309.1:p.Val23804Leu
XM_017004821.1:c.71407G>T (TTN)	XP_016860310.1:p.Val23803Leu
XM_017004822.1:c.68449G>T (TTN)	XP_016860311.1:p.Val22817Leu
XM_017004823.1:c.50065G>T (TTN)	XP_016860312.1:p.Val16689Leu
XM_024453094.1:c.71560G>T (TTN)	XP_024308862.1:p.Val23854Leu
XM_024453095.1:c.71557G>T (TTN)	XP_024308863.1:p.Val23853Leu
XM_024453096.1:c.70990G>T (TTN)	XP_024308864.1:p.Val23664Leu
XM_024453097.1:c.68332G>T (TTN)	XP_024308865.1:p.Val22778Leu
XM_024453098.1:c.68251G>T (TTN)	XP_024308866.1:p.Val22751Leu
XM_024453099.1:c.50014G>T (TTN)	XP_024308867.1:p.Val16672Leu
XM_024453100.1:c.39868G>T (TTN)	XP_024308868.1:p.Val13290Leu