Canonical Allele Identifier: CA1995171

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs768229241
• ExAC: 2:179483515 C / T
• gnomAD v2: 2-179483515-C-T
• gnomAD v4: 2-178618788-C-T
• MyVariant Identifiers: chr2:g.179483515C>T (hg19) ; chr2:g.178618788C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618788C>T , CM000664.2:g.178618788C>T	GRCh38
NC_000002.11:g.179483515C>T , CM000664.1:g.179483515C>T	GRCh37
NC_000002.10:g.179191760C>T	NCBI36
NG_011618.3:g.217015G>A , LRG_391:g.217015G>A
NG_051363.1:g.100962C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39058G>A (TTN)	ENSP00000343764.6:p.Val13020Met
ENST00000342175.11:c.20143G>A (TTN)	ENSP00000340554.6:p.Val6715Met
ENST00000359218.10:c.19942G>A (TTN)	ENSP00000352154.5:p.Val6648Met
ENST00000342175.10:c.20143G>A (TTN)	ENSP00000340554.6:p.Val6715Met
ENST00000342992.10:c.39058G>A (TTN)	ENSP00000343764.6:p.Val13020Met
ENST00000359218.9:c.19942G>A (TTN)	ENSP00000352154.5:p.Val6648Met
ENST00000460472.6:c.19567G>A (TTN)	ENSP00000434586.1:p.Val6523Met
ENST00000589042.5:c.46762G>A (TTN) MANE Select	ENSP00000467141.1:p.Val15588Met
ENST00000591111.5:c.41839G>A (TTN)	ENSP00000465570.1:p.Val13947Met
ENST00000615779.4:c.41839G>A (TTN)	ENSP00000483597.1:p.Val13947Met
NM_001256850.1:c.41839G>A (TTN)	NP_001243779.1:p.Val13947Met
NM_001267550.2:c.46762G>A (TTN) MANE Select	NP_001254479.2:p.Val15588Met
NM_003319.4:c.19567G>A (TTN)	NP_003310.4:p.Val6523Met
NM_133378.4:c.39058G>A (TTN)	NP_596869.4:p.Val13020Met
NM_133432.3:c.19942G>A (TTN)	NP_597676.3:p.Val6648Met
NM_133437.4:c.20143G>A (TTN)	NP_597681.4:p.Val6715Met
NR_038271.1:n.1605-965C>T (TTN-AS1)
XM_011511729.1:c.45859G>A (TTN)	XP_011510031.1:p.Val15287Met
XM_011511730.1:c.19753G>A (TTN)	XP_011510032.1:p.Val6585Met
XM_011511731.1:c.19612G>A (TTN)	XP_011510033.1:p.Val6538Met
XM_017004819.1:c.45655G>A (TTN)	XP_016860308.1:p.Val15219Met
XM_017004820.1:c.41053G>A (TTN)	XP_016860309.1:p.Val13685Met
XM_017004821.1:c.41050G>A (TTN)	XP_016860310.1:p.Val13684Met
XM_017004822.1:c.38092G>A (TTN)	XP_016860311.1:p.Val12698Met
XM_017004823.1:c.19708G>A (TTN)	XP_016860312.1:p.Val6570Met
XM_024453094.1:c.41203G>A (TTN)	XP_024308862.1:p.Val13735Met
XM_024453095.1:c.41200G>A (TTN)	XP_024308863.1:p.Val13734Met
XM_024453096.1:c.40633G>A (TTN)	XP_024308864.1:p.Val13545Met
XM_024453097.1:c.37975G>A (TTN)	XP_024308865.1:p.Val12659Met
XM_024453098.1:c.37894G>A (TTN)	XP_024308866.1:p.Val12632Met
XM_024453099.1:c.19657G>A (TTN)	XP_024308867.1:p.Val6553Met
XM_024453100.1:c.9511G>A (TTN)	XP_024308868.1:p.Val3171Met