Canonical Allele Identifier: CA349470170

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178546621-C-T
• MyVariant Identifiers: chr2:g.179411348C>T (hg19) ; chr2:g.178546621C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546621C>T , CM000664.2:g.178546621C>T	GRCh38
NC_000002.11:g.179411348C>T , CM000664.1:g.179411348C>T	GRCh37
NC_000002.10:g.179119594C>T	NCBI36
NG_011618.3:g.289182G>A , LRG_391:g.289182G>A
NG_051363.1:g.28795C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.87103G>A (TTN)	ENSP00000343764.6:p.Val29035Ile
ENST00000342175.11:c.68188G>A (TTN)	ENSP00000340554.6:p.Val22730Ile
ENST00000359218.10:c.67987G>A (TTN)	ENSP00000352154.5:p.Val22663Ile
ENST00000342175.10:c.68188G>A (TTN)	ENSP00000340554.6:p.Val22730Ile
ENST00000342992.10:c.87103G>A (TTN)	ENSP00000343764.6:p.Val29035Ile
ENST00000359218.9:c.67987G>A (TTN)	ENSP00000352154.5:p.Val22663Ile
ENST00000460472.6:c.67612G>A (TTN)	ENSP00000434586.1:p.Val22538Ile
ENST00000589042.5:c.94807G>A (TTN) MANE Select	ENSP00000467141.1:p.Val31603Ile
ENST00000591111.5:c.89884G>A (TTN)	ENSP00000465570.1:p.Val29962Ile
ENST00000615779.4:c.89884G>A (TTN)	ENSP00000483597.1:p.Val29962Ile
NM_001256850.1:c.89884G>A (TTN)	NP_001243779.1:p.Val29962Ile
NM_001267550.2:c.94807G>A (TTN) MANE Select	NP_001254479.2:p.Val31603Ile
NM_003319.4:c.67612G>A (TTN)	NP_003310.4:p.Val22538Ile
NM_133378.4:c.87103G>A (TTN)	NP_596869.4:p.Val29035Ile
NM_133432.3:c.67987G>A (TTN)	NP_597676.3:p.Val22663Ile
NM_133437.4:c.68188G>A (TTN)	NP_597681.4:p.Val22730Ile
NR_038271.1:n.446+22985C>T (TTN-AS1)
NR_038272.1:n.2043+4260C>T (TTN-AS1)
XM_011511729.1:c.93904G>A (TTN)	XP_011510031.1:p.Val31302Ile
XM_011511730.1:c.67798G>A (TTN)	XP_011510032.1:p.Val22600Ile
XM_011511731.1:c.67657G>A (TTN)	XP_011510033.1:p.Val22553Ile
XM_017004819.1:c.93700G>A (TTN)	XP_016860308.1:p.Val31234Ile
XM_017004820.1:c.89098G>A (TTN)	XP_016860309.1:p.Val29700Ile
XM_017004821.1:c.89095G>A (TTN)	XP_016860310.1:p.Val29699Ile
XM_017004822.1:c.86137G>A (TTN)	XP_016860311.1:p.Val28713Ile
XM_017004823.1:c.67753G>A (TTN)	XP_016860312.1:p.Val22585Ile
XM_024453094.1:c.89248G>A (TTN)	XP_024308862.1:p.Val29750Ile
XM_024453095.1:c.89245G>A (TTN)	XP_024308863.1:p.Val29749Ile
XM_024453096.1:c.88678G>A (TTN)	XP_024308864.1:p.Val29560Ile
XM_024453097.1:c.86020G>A (TTN)	XP_024308865.1:p.Val28674Ile
XM_024453098.1:c.85939G>A (TTN)	XP_024308866.1:p.Val28647Ile
XM_024453099.1:c.67702G>A (TTN)	XP_024308867.1:p.Val22568Ile
XM_024453100.1:c.57556G>A (TTN)	XP_024308868.1:p.Val19186Ile