Canonical Allele Identifier: CA349466271

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178546215-G-T
• MyVariant Identifiers: chr2:g.179410942G>T (hg19) ; chr2:g.178546215G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546215G>T , CM000664.2:g.178546215G>T	GRCh38
NC_000002.11:g.179410942G>T , CM000664.1:g.179410942G>T	GRCh37
NC_000002.10:g.179119188G>T	NCBI36
NG_011618.3:g.289588C>A , LRG_391:g.289588C>A
NG_051363.1:g.28389G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.87412C>A (TTN)	ENSP00000343764.6:p.Leu29138Ile
ENST00000342175.11:c.68497C>A (TTN)	ENSP00000340554.6:p.Leu22833Ile
ENST00000359218.10:c.68296C>A (TTN)	ENSP00000352154.5:p.Leu22766Ile
ENST00000342175.10:c.68497C>A (TTN)	ENSP00000340554.6:p.Leu22833Ile
ENST00000342992.10:c.87412C>A (TTN)	ENSP00000343764.6:p.Leu29138Ile
ENST00000359218.9:c.68296C>A (TTN)	ENSP00000352154.5:p.Leu22766Ile
ENST00000460472.6:c.67921C>A (TTN)	ENSP00000434586.1:p.Leu22641Ile
ENST00000589042.5:c.95116C>A (TTN) MANE Select	ENSP00000467141.1:p.Leu31706Ile
ENST00000591111.5:c.90193C>A (TTN)	ENSP00000465570.1:p.Leu30065Ile
ENST00000615779.4:c.90193C>A (TTN)	ENSP00000483597.1:p.Leu30065Ile
NM_001256850.1:c.90193C>A (TTN)	NP_001243779.1:p.Leu30065Ile
NM_001267550.2:c.95116C>A (TTN) MANE Select	NP_001254479.2:p.Leu31706Ile
NM_003319.4:c.67921C>A (TTN)	NP_003310.4:p.Leu22641Ile
NM_133378.4:c.87412C>A (TTN)	NP_596869.4:p.Leu29138Ile
NM_133432.3:c.68296C>A (TTN)	NP_597676.3:p.Leu22766Ile
NM_133437.4:c.68497C>A (TTN)	NP_597681.4:p.Leu22833Ile
NR_038271.1:n.446+22579G>T (TTN-AS1)
NR_038272.1:n.2043+3854G>T (TTN-AS1)
XM_011511729.1:c.94213C>A (TTN)	XP_011510031.1:p.Leu31405Ile
XM_011511730.1:c.68107C>A (TTN)	XP_011510032.1:p.Leu22703Ile
XM_011511731.1:c.67966C>A (TTN)	XP_011510033.1:p.Leu22656Ile
XM_017004819.1:c.94009C>A (TTN)	XP_016860308.1:p.Leu31337Ile
XM_017004820.1:c.89407C>A (TTN)	XP_016860309.1:p.Leu29803Ile
XM_017004821.1:c.89404C>A (TTN)	XP_016860310.1:p.Leu29802Ile
XM_017004822.1:c.86446C>A (TTN)	XP_016860311.1:p.Leu28816Ile
XM_017004823.1:c.68062C>A (TTN)	XP_016860312.1:p.Leu22688Ile
XM_024453094.1:c.89557C>A (TTN)	XP_024308862.1:p.Leu29853Ile
XM_024453095.1:c.89554C>A (TTN)	XP_024308863.1:p.Leu29852Ile
XM_024453096.1:c.88987C>A (TTN)	XP_024308864.1:p.Leu29663Ile
XM_024453097.1:c.86329C>A (TTN)	XP_024308865.1:p.Leu28777Ile
XM_024453098.1:c.86248C>A (TTN)	XP_024308866.1:p.Leu28750Ile
XM_024453099.1:c.68011C>A (TTN)	XP_024308867.1:p.Leu22671Ile
XM_024453100.1:c.57865C>A (TTN)	XP_024308868.1:p.Leu19289Ile