Canonical Allele Identifier: CA349407073

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395261T>G (hg19) ; chr2:g.178530534T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530534T>G , CM000664.2:g.178530534T>G	GRCh38
NC_000002.11:g.179395261T>G , CM000664.1:g.179395261T>G	GRCh37
NC_000002.10:g.179103507T>G	NCBI36
NG_011618.3:g.305269A>C , LRG_391:g.305269A>C
NG_051363.1:g.12708T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98377A>C (TTN)	ENSP00000343764.6:p.Ile32793Leu
ENST00000342175.11:c.79462A>C (TTN)	ENSP00000340554.6:p.Ile26488Leu
ENST00000359218.10:c.79261A>C (TTN)	ENSP00000352154.5:p.Ile26421Leu
ENST00000342175.10:c.79462A>C (TTN)	ENSP00000340554.6:p.Ile26488Leu
ENST00000342992.10:c.98377A>C (TTN)	ENSP00000343764.6:p.Ile32793Leu
ENST00000359218.9:c.79261A>C (TTN)	ENSP00000352154.5:p.Ile26421Leu
ENST00000460472.6:c.78886A>C (TTN)	ENSP00000434586.1:p.Ile26296Leu
ENST00000589042.5:c.106081A>C (TTN) MANE Select	ENSP00000467141.1:p.Ile35361Leu
ENST00000591111.5:c.101158A>C (TTN)	ENSP00000465570.1:p.Ile33720Leu
ENST00000615779.4:c.101158A>C (TTN)	ENSP00000483597.1:p.Ile33720Leu
NM_001256850.1:c.101158A>C (TTN)	NP_001243779.1:p.Ile33720Leu
NM_001267550.2:c.106081A>C (TTN) MANE Select	NP_001254479.2:p.Ile35361Leu
NM_003319.4:c.78886A>C (TTN)	NP_003310.4:p.Ile26296Leu
NM_133378.4:c.98377A>C (TTN)	NP_596869.4:p.Ile32793Leu
NM_133432.3:c.79261A>C (TTN)	NP_597676.3:p.Ile26421Leu
NM_133437.4:c.79462A>C (TTN)	NP_597681.4:p.Ile26488Leu
NR_038271.1:n.446+6898T>G (TTN-AS1)
NR_038272.1:n.220-5198T>G (TTN-AS1)
XM_011511729.1:c.105178A>C (TTN)	XP_011510031.1:p.Ile35060Leu
XM_011511730.1:c.79072A>C (TTN)	XP_011510032.1:p.Ile26358Leu
XM_011511731.1:c.78931A>C (TTN)	XP_011510033.1:p.Ile26311Leu
XM_017004819.1:c.104974A>C (TTN)	XP_016860308.1:p.Ile34992Leu
XM_017004820.1:c.100372A>C (TTN)	XP_016860309.1:p.Ile33458Leu
XM_017004821.1:c.100369A>C (TTN)	XP_016860310.1:p.Ile33457Leu
XM_017004822.1:c.97411A>C (TTN)	XP_016860311.1:p.Ile32471Leu
XM_017004823.1:c.79027A>C (TTN)	XP_016860312.1:p.Ile26343Leu
XM_024453094.1:c.100522A>C (TTN)	XP_024308862.1:p.Ile33508Leu
XM_024453095.1:c.100519A>C (TTN)	XP_024308863.1:p.Ile33507Leu
XM_024453096.1:c.99952A>C (TTN)	XP_024308864.1:p.Ile33318Leu
XM_024453097.1:c.97294A>C (TTN)	XP_024308865.1:p.Ile32432Leu
XM_024453098.1:c.97213A>C (TTN)	XP_024308866.1:p.Ile32405Leu
XM_024453099.1:c.78976A>C (TTN)	XP_024308867.1:p.Ile26326Leu
XM_024453100.1:c.68830A>C (TTN)	XP_024308868.1:p.Ile22944Leu