Canonical Allele Identifier: CA349672539

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178578084-C-T
• MyVariant Identifiers: chr2:g.179442811C>T (hg19) ; chr2:g.178578084C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178578084C>T , CM000664.2:g.178578084C>T	GRCh38
NC_000002.11:g.179442811C>T , CM000664.1:g.179442811C>T	GRCh37
NC_000002.10:g.179151057C>T	NCBI36
NG_011618.3:g.257719G>A , LRG_391:g.257719G>A
NG_051363.1:g.60258C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.60727G>A (TTN)	ENSP00000343764.6:p.Gly20243Ser
ENST00000342175.11:c.41812G>A (TTN)	ENSP00000340554.6:p.Gly13938Ser
ENST00000359218.10:c.41611G>A (TTN)	ENSP00000352154.5:p.Gly13871Ser
ENST00000342175.10:c.41812G>A (TTN)	ENSP00000340554.6:p.Gly13938Ser
ENST00000342992.10:c.60727G>A (TTN)	ENSP00000343764.6:p.Gly20243Ser
ENST00000359218.9:c.41611G>A (TTN)	ENSP00000352154.5:p.Gly13871Ser
ENST00000460472.6:c.41236G>A (TTN)	ENSP00000434586.1:p.Gly13746Ser
ENST00000589042.5:c.68431G>A (TTN) MANE Select	ENSP00000467141.1:p.Gly22811Ser
ENST00000591111.5:c.63508G>A (TTN)	ENSP00000465570.1:p.Gly21170Ser
ENST00000615779.4:c.63508G>A (TTN)	ENSP00000483597.1:p.Gly21170Ser
NM_001256850.1:c.63508G>A (TTN)	NP_001243779.1:p.Gly21170Ser
NM_001267550.2:c.68431G>A (TTN) MANE Select	NP_001254479.2:p.Gly22811Ser
NM_003319.4:c.41236G>A (TTN)	NP_003310.4:p.Gly13746Ser
NM_133378.4:c.60727G>A (TTN)	NP_596869.4:p.Gly20243Ser
NM_133432.3:c.41611G>A (TTN)	NP_597676.3:p.Gly13871Ser
NM_133437.4:c.41812G>A (TTN)	NP_597681.4:p.Gly13938Ser
NR_038271.1:n.596+6635C>T (TTN-AS1)
NR_038272.1:n.2044-4488C>T (TTN-AS1)
XM_011511729.1:c.67528G>A (TTN)	XP_011510031.1:p.Gly22510Ser
XM_011511730.1:c.41422G>A (TTN)	XP_011510032.1:p.Gly13808Ser
XM_011511731.1:c.41281G>A (TTN)	XP_011510033.1:p.Gly13761Ser
XM_017004819.1:c.67324G>A (TTN)	XP_016860308.1:p.Gly22442Ser
XM_017004820.1:c.62722G>A (TTN)	XP_016860309.1:p.Gly20908Ser
XM_017004821.1:c.62719G>A (TTN)	XP_016860310.1:p.Gly20907Ser
XM_017004822.1:c.59761G>A (TTN)	XP_016860311.1:p.Gly19921Ser
XM_017004823.1:c.41377G>A (TTN)	XP_016860312.1:p.Gly13793Ser
XM_024453094.1:c.62872G>A (TTN)	XP_024308862.1:p.Gly20958Ser
XM_024453095.1:c.62869G>A (TTN)	XP_024308863.1:p.Gly20957Ser
XM_024453096.1:c.62302G>A (TTN)	XP_024308864.1:p.Gly20768Ser
XM_024453097.1:c.59644G>A (TTN)	XP_024308865.1:p.Gly19882Ser
XM_024453098.1:c.59563G>A (TTN)	XP_024308866.1:p.Gly19855Ser
XM_024453099.1:c.41326G>A (TTN)	XP_024308867.1:p.Gly13776Ser
XM_024453100.1:c.31180G>A (TTN)	XP_024308868.1:p.Gly10394Ser