Canonical Allele Identifier: CA349417279

Gene: TTN TTN-AS1

Linked Data

• gnomAD v3: 2-178534062-T-G
• gnomAD v4: 2-178534062-T-G
• MyVariant Identifiers: chr2:g.179398789T>G (hg19) ; chr2:g.178534062T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178534062T>G , CM000664.2:g.178534062T>G	GRCh38
NC_000002.11:g.179398789T>G , CM000664.1:g.179398789T>G	GRCh37
NC_000002.10:g.179107035T>G	NCBI36
NG_011618.3:g.301741A>C , LRG_391:g.301741A>C
NG_051363.1:g.16236T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.94849A>C (TTN)	ENSP00000343764.6:p.Ile31617Leu
ENST00000342175.11:c.75934A>C (TTN)	ENSP00000340554.6:p.Ile25312Leu
ENST00000359218.10:c.75733A>C (TTN)	ENSP00000352154.5:p.Ile25245Leu
ENST00000342175.10:c.75934A>C (TTN)	ENSP00000340554.6:p.Ile25312Leu
ENST00000342992.10:c.94849A>C (TTN)	ENSP00000343764.6:p.Ile31617Leu
ENST00000359218.9:c.75733A>C (TTN)	ENSP00000352154.5:p.Ile25245Leu
ENST00000460472.6:c.75358A>C (TTN)	ENSP00000434586.1:p.Ile25120Leu
ENST00000589042.5:c.102553A>C (TTN) MANE Select	ENSP00000467141.1:p.Ile34185Leu
ENST00000591111.5:c.97630A>C (TTN)	ENSP00000465570.1:p.Ile32544Leu
ENST00000615779.4:c.97630A>C (TTN)	ENSP00000483597.1:p.Ile32544Leu
NM_001256850.1:c.97630A>C (TTN)	NP_001243779.1:p.Ile32544Leu
NM_001267550.2:c.102553A>C (TTN) MANE Select	NP_001254479.2:p.Ile34185Leu
NM_003319.4:c.75358A>C (TTN)	NP_003310.4:p.Ile25120Leu
NM_133378.4:c.94849A>C (TTN)	NP_596869.4:p.Ile31617Leu
NM_133432.3:c.75733A>C (TTN)	NP_597676.3:p.Ile25245Leu
NM_133437.4:c.75934A>C (TTN)	NP_597681.4:p.Ile25312Leu
NR_038271.1:n.446+10426T>G (TTN-AS1)
NR_038272.1:n.220-1670T>G (TTN-AS1)
XM_011511729.1:c.101650A>C (TTN)	XP_011510031.1:p.Ile33884Leu
XM_011511730.1:c.75544A>C (TTN)	XP_011510032.1:p.Ile25182Leu
XM_011511731.1:c.75403A>C (TTN)	XP_011510033.1:p.Ile25135Leu
XM_017004819.1:c.101446A>C (TTN)	XP_016860308.1:p.Ile33816Leu
XM_017004820.1:c.96844A>C (TTN)	XP_016860309.1:p.Ile32282Leu
XM_017004821.1:c.96841A>C (TTN)	XP_016860310.1:p.Ile32281Leu
XM_017004822.1:c.93883A>C (TTN)	XP_016860311.1:p.Ile31295Leu
XM_017004823.1:c.75499A>C (TTN)	XP_016860312.1:p.Ile25167Leu
XM_024453094.1:c.96994A>C (TTN)	XP_024308862.1:p.Ile32332Leu
XM_024453095.1:c.96991A>C (TTN)	XP_024308863.1:p.Ile32331Leu
XM_024453096.1:c.96424A>C (TTN)	XP_024308864.1:p.Ile32142Leu
XM_024453097.1:c.93766A>C (TTN)	XP_024308865.1:p.Ile31256Leu
XM_024453098.1:c.93685A>C (TTN)	XP_024308866.1:p.Ile31229Leu
XM_024453099.1:c.75448A>C (TTN)	XP_024308867.1:p.Ile25150Leu
XM_024453100.1:c.65302A>C (TTN)	XP_024308868.1:p.Ile21768Leu