Canonical Allele Identifier: CA349672196

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178578006-C-A
• MyVariant Identifiers: chr2:g.179442733C>A (hg19) ; chr2:g.178578006C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178578006C>A , CM000664.2:g.178578006C>A	GRCh38
NC_000002.11:g.179442733C>A , CM000664.1:g.179442733C>A	GRCh37
NC_000002.10:g.179150979C>A	NCBI36
NG_011618.3:g.257797G>T , LRG_391:g.257797G>T
NG_051363.1:g.60180C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.60805G>T (TTN)	ENSP00000343764.6:p.Val20269Leu
ENST00000342175.11:c.41890G>T (TTN)	ENSP00000340554.6:p.Val13964Leu
ENST00000359218.10:c.41689G>T (TTN)	ENSP00000352154.5:p.Val13897Leu
ENST00000342175.10:c.41890G>T (TTN)	ENSP00000340554.6:p.Val13964Leu
ENST00000342992.10:c.60805G>T (TTN)	ENSP00000343764.6:p.Val20269Leu
ENST00000359218.9:c.41689G>T (TTN)	ENSP00000352154.5:p.Val13897Leu
ENST00000460472.6:c.41314G>T (TTN)	ENSP00000434586.1:p.Val13772Leu
ENST00000589042.5:c.68509G>T (TTN) MANE Select	ENSP00000467141.1:p.Val22837Leu
ENST00000591111.5:c.63586G>T (TTN)	ENSP00000465570.1:p.Val21196Leu
ENST00000615779.4:c.63586G>T (TTN)	ENSP00000483597.1:p.Val21196Leu
NM_001256850.1:c.63586G>T (TTN)	NP_001243779.1:p.Val21196Leu
NM_001267550.2:c.68509G>T (TTN) MANE Select	NP_001254479.2:p.Val22837Leu
NM_003319.4:c.41314G>T (TTN)	NP_003310.4:p.Val13772Leu
NM_133378.4:c.60805G>T (TTN)	NP_596869.4:p.Val20269Leu
NM_133432.3:c.41689G>T (TTN)	NP_597676.3:p.Val13897Leu
NM_133437.4:c.41890G>T (TTN)	NP_597681.4:p.Val13964Leu
NR_038271.1:n.596+6557C>A (TTN-AS1)
NR_038272.1:n.2044-4566C>A (TTN-AS1)
XM_011511729.1:c.67606G>T (TTN)	XP_011510031.1:p.Val22536Leu
XM_011511730.1:c.41500G>T (TTN)	XP_011510032.1:p.Val13834Leu
XM_011511731.1:c.41359G>T (TTN)	XP_011510033.1:p.Val13787Leu
XM_017004819.1:c.67402G>T (TTN)	XP_016860308.1:p.Val22468Leu
XM_017004820.1:c.62800G>T (TTN)	XP_016860309.1:p.Val20934Leu
XM_017004821.1:c.62797G>T (TTN)	XP_016860310.1:p.Val20933Leu
XM_017004822.1:c.59839G>T (TTN)	XP_016860311.1:p.Val19947Leu
XM_017004823.1:c.41455G>T (TTN)	XP_016860312.1:p.Val13819Leu
XM_024453094.1:c.62950G>T (TTN)	XP_024308862.1:p.Val20984Leu
XM_024453095.1:c.62947G>T (TTN)	XP_024308863.1:p.Val20983Leu
XM_024453096.1:c.62380G>T (TTN)	XP_024308864.1:p.Val20794Leu
XM_024453097.1:c.59722G>T (TTN)	XP_024308865.1:p.Val19908Leu
XM_024453098.1:c.59641G>T (TTN)	XP_024308866.1:p.Val19881Leu
XM_024453099.1:c.41404G>T (TTN)	XP_024308867.1:p.Val13802Leu
XM_024453100.1:c.31258G>T (TTN)	XP_024308868.1:p.Val10420Leu