Canonical Allele Identifier: CA349454309

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408825G>T (hg19) ; chr2:g.178544098G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544098G>T , CM000664.2:g.178544098G>T	GRCh38
NC_000002.11:g.179408825G>T , CM000664.1:g.179408825G>T	GRCh37
NC_000002.10:g.179117071G>T	NCBI36
NG_011618.3:g.291705C>A , LRG_391:g.291705C>A
NG_051363.1:g.26272G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88342C>A (TTN)	ENSP00000343764.6:p.Leu29448Ile
ENST00000342175.11:c.69427C>A (TTN)	ENSP00000340554.6:p.Leu23143Ile
ENST00000359218.10:c.69226C>A (TTN)	ENSP00000352154.5:p.Leu23076Ile
ENST00000342175.10:c.69427C>A (TTN)	ENSP00000340554.6:p.Leu23143Ile
ENST00000342992.10:c.88342C>A (TTN)	ENSP00000343764.6:p.Leu29448Ile
ENST00000359218.9:c.69226C>A (TTN)	ENSP00000352154.5:p.Leu23076Ile
ENST00000460472.6:c.68851C>A (TTN)	ENSP00000434586.1:p.Leu22951Ile
ENST00000589042.5:c.96046C>A (TTN) MANE Select	ENSP00000467141.1:p.Leu32016Ile
ENST00000591111.5:c.91123C>A (TTN)	ENSP00000465570.1:p.Leu30375Ile
ENST00000615779.4:c.91123C>A (TTN)	ENSP00000483597.1:p.Leu30375Ile
NM_001256850.1:c.91123C>A (TTN)	NP_001243779.1:p.Leu30375Ile
NM_001267550.2:c.96046C>A (TTN) MANE Select	NP_001254479.2:p.Leu32016Ile
NM_003319.4:c.68851C>A (TTN)	NP_003310.4:p.Leu22951Ile
NM_133378.4:c.88342C>A (TTN)	NP_596869.4:p.Leu29448Ile
NM_133432.3:c.69226C>A (TTN)	NP_597676.3:p.Leu23076Ile
NM_133437.4:c.69427C>A (TTN)	NP_597681.4:p.Leu23143Ile
NR_038271.1:n.446+20462G>T (TTN-AS1)
NR_038272.1:n.2043+1737G>T (TTN-AS1)
XM_011511729.1:c.95143C>A (TTN)	XP_011510031.1:p.Leu31715Ile
XM_011511730.1:c.69037C>A (TTN)	XP_011510032.1:p.Leu23013Ile
XM_011511731.1:c.68896C>A (TTN)	XP_011510033.1:p.Leu22966Ile
XM_017004819.1:c.94939C>A (TTN)	XP_016860308.1:p.Leu31647Ile
XM_017004820.1:c.90337C>A (TTN)	XP_016860309.1:p.Leu30113Ile
XM_017004821.1:c.90334C>A (TTN)	XP_016860310.1:p.Leu30112Ile
XM_017004822.1:c.87376C>A (TTN)	XP_016860311.1:p.Leu29126Ile
XM_017004823.1:c.68992C>A (TTN)	XP_016860312.1:p.Leu22998Ile
XM_024453094.1:c.90487C>A (TTN)	XP_024308862.1:p.Leu30163Ile
XM_024453095.1:c.90484C>A (TTN)	XP_024308863.1:p.Leu30162Ile
XM_024453096.1:c.89917C>A (TTN)	XP_024308864.1:p.Leu29973Ile
XM_024453097.1:c.87259C>A (TTN)	XP_024308865.1:p.Leu29087Ile
XM_024453098.1:c.87178C>A (TTN)	XP_024308866.1:p.Leu29060Ile
XM_024453099.1:c.68941C>A (TTN)	XP_024308867.1:p.Leu22981Ile
XM_024453100.1:c.58795C>A (TTN)	XP_024308868.1:p.Leu19599Ile