Canonical Allele Identifier: CA349459659

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178545469-A-T
• MyVariant Identifiers: chr2:g.179410196A>T (hg19) ; chr2:g.178545469A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178545469A>T , CM000664.2:g.178545469A>T	GRCh38
NC_000002.11:g.179410196A>T , CM000664.1:g.179410196A>T	GRCh37
NC_000002.10:g.179118442A>T	NCBI36
NG_011618.3:g.290334T>A , LRG_391:g.290334T>A
NG_051363.1:g.27643A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.87937T>A (TTN)	ENSP00000343764.6:p.Phe29313Ile
ENST00000342175.11:c.69022T>A (TTN)	ENSP00000340554.6:p.Phe23008Ile
ENST00000359218.10:c.68821T>A (TTN)	ENSP00000352154.5:p.Phe22941Ile
ENST00000342175.10:c.69022T>A (TTN)	ENSP00000340554.6:p.Phe23008Ile
ENST00000342992.10:c.87937T>A (TTN)	ENSP00000343764.6:p.Phe29313Ile
ENST00000359218.9:c.68821T>A (TTN)	ENSP00000352154.5:p.Phe22941Ile
ENST00000460472.6:c.68446T>A (TTN)	ENSP00000434586.1:p.Phe22816Ile
ENST00000589042.5:c.95641T>A (TTN) MANE Select	ENSP00000467141.1:p.Phe31881Ile
ENST00000591111.5:c.90718T>A (TTN)	ENSP00000465570.1:p.Phe30240Ile
ENST00000615779.4:c.90718T>A (TTN)	ENSP00000483597.1:p.Phe30240Ile
NM_001256850.1:c.90718T>A (TTN)	NP_001243779.1:p.Phe30240Ile
NM_001267550.2:c.95641T>A (TTN) MANE Select	NP_001254479.2:p.Phe31881Ile
NM_003319.4:c.68446T>A (TTN)	NP_003310.4:p.Phe22816Ile
NM_133378.4:c.87937T>A (TTN)	NP_596869.4:p.Phe29313Ile
NM_133432.3:c.68821T>A (TTN)	NP_597676.3:p.Phe22941Ile
NM_133437.4:c.69022T>A (TTN)	NP_597681.4:p.Phe23008Ile
NR_038271.1:n.446+21833A>T (TTN-AS1)
NR_038272.1:n.2043+3108A>T (TTN-AS1)
XM_011511729.1:c.94738T>A (TTN)	XP_011510031.1:p.Phe31580Ile
XM_011511730.1:c.68632T>A (TTN)	XP_011510032.1:p.Phe22878Ile
XM_011511731.1:c.68491T>A (TTN)	XP_011510033.1:p.Phe22831Ile
XM_017004819.1:c.94534T>A (TTN)	XP_016860308.1:p.Phe31512Ile
XM_017004820.1:c.89932T>A (TTN)	XP_016860309.1:p.Phe29978Ile
XM_017004821.1:c.89929T>A (TTN)	XP_016860310.1:p.Phe29977Ile
XM_017004822.1:c.86971T>A (TTN)	XP_016860311.1:p.Phe28991Ile
XM_017004823.1:c.68587T>A (TTN)	XP_016860312.1:p.Phe22863Ile
XM_024453094.1:c.90082T>A (TTN)	XP_024308862.1:p.Phe30028Ile
XM_024453095.1:c.90079T>A (TTN)	XP_024308863.1:p.Phe30027Ile
XM_024453096.1:c.89512T>A (TTN)	XP_024308864.1:p.Phe29838Ile
XM_024453097.1:c.86854T>A (TTN)	XP_024308865.1:p.Phe28952Ile
XM_024453098.1:c.86773T>A (TTN)	XP_024308866.1:p.Phe28925Ile
XM_024453099.1:c.68536T>A (TTN)	XP_024308867.1:p.Phe22846Ile
XM_024453100.1:c.58390T>A (TTN)	XP_024308868.1:p.Phe19464Ile