Canonical Allele Identifier: CA349423570

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178579674-T-A
• MyVariant Identifiers: chr2:g.179444401T>A (hg19) ; chr2:g.178579674T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178579674T>A , CM000664.2:g.178579674T>A	GRCh38
NC_000002.11:g.179444401T>A , CM000664.1:g.179444401T>A	GRCh37
NC_000002.10:g.179152647T>A	NCBI36
NG_011618.3:g.256129A>T , LRG_391:g.256129A>T
NG_051363.1:g.61848T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.59819A>T (TTN)	ENSP00000343764.6:p.Tyr19940Phe
ENST00000342175.11:c.40904A>T (TTN)	ENSP00000340554.6:p.Tyr13635Phe
ENST00000359218.10:c.40703A>T (TTN)	ENSP00000352154.5:p.Tyr13568Phe
ENST00000342175.10:c.40904A>T (TTN)	ENSP00000340554.6:p.Tyr13635Phe
ENST00000342992.10:c.59819A>T (TTN)	ENSP00000343764.6:p.Tyr19940Phe
ENST00000359218.9:c.40703A>T (TTN)	ENSP00000352154.5:p.Tyr13568Phe
ENST00000460472.6:c.40328A>T (TTN)	ENSP00000434586.1:p.Tyr13443Phe
ENST00000589042.5:c.67523A>T (TTN) MANE Select	ENSP00000467141.1:p.Tyr22508Phe
ENST00000591111.5:c.62600A>T (TTN)	ENSP00000465570.1:p.Tyr20867Phe
ENST00000615779.4:c.62600A>T (TTN)	ENSP00000483597.1:p.Tyr20867Phe
NM_001256850.1:c.62600A>T (TTN)	NP_001243779.1:p.Tyr20867Phe
NM_001267550.2:c.67523A>T (TTN) MANE Select	NP_001254479.2:p.Tyr22508Phe
NM_003319.4:c.40328A>T (TTN)	NP_003310.4:p.Tyr13443Phe
NM_133378.4:c.59819A>T (TTN)	NP_596869.4:p.Tyr19940Phe
NM_133432.3:c.40703A>T (TTN)	NP_597676.3:p.Tyr13568Phe
NM_133437.4:c.40904A>T (TTN)	NP_597681.4:p.Tyr13635Phe
NR_038271.1:n.596+8225T>A (TTN-AS1)
NR_038272.1:n.2044-2898T>A (TTN-AS1)
XM_011511729.1:c.66620A>T (TTN)	XP_011510031.1:p.Tyr22207Phe
XM_011511730.1:c.40514A>T (TTN)	XP_011510032.1:p.Tyr13505Phe
XM_011511731.1:c.40373A>T (TTN)	XP_011510033.1:p.Tyr13458Phe
XM_017004819.1:c.66416A>T (TTN)	XP_016860308.1:p.Tyr22139Phe
XM_017004820.1:c.61814A>T (TTN)	XP_016860309.1:p.Tyr20605Phe
XM_017004821.1:c.61811A>T (TTN)	XP_016860310.1:p.Tyr20604Phe
XM_017004822.1:c.58853A>T (TTN)	XP_016860311.1:p.Tyr19618Phe
XM_017004823.1:c.40469A>T (TTN)	XP_016860312.1:p.Tyr13490Phe
XM_024453094.1:c.61964A>T (TTN)	XP_024308862.1:p.Tyr20655Phe
XM_024453095.1:c.61961A>T (TTN)	XP_024308863.1:p.Tyr20654Phe
XM_024453096.1:c.61394A>T (TTN)	XP_024308864.1:p.Tyr20465Phe
XM_024453097.1:c.58736A>T (TTN)	XP_024308865.1:p.Tyr19579Phe
XM_024453098.1:c.58655A>T (TTN)	XP_024308866.1:p.Tyr19552Phe
XM_024453099.1:c.40418A>T (TTN)	XP_024308867.1:p.Tyr13473Phe
XM_024453100.1:c.30272A>T (TTN)	XP_024308868.1:p.Tyr10091Phe