Canonical Allele Identifier: CA349480136

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178591021-T-A
• MyVariant Identifiers: chr2:g.179455748T>A (hg19) ; chr2:g.178591021T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591021T>A , CM000664.2:g.178591021T>A	GRCh38
NC_000002.11:g.179455748T>A , CM000664.1:g.179455748T>A	GRCh37
NC_000002.10:g.179163994T>A	NCBI36
NG_011618.3:g.244782A>T , LRG_391:g.244782A>T
NG_051363.1:g.73195T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.53000A>T (TTN)	ENSP00000343764.6:p.His17667Leu
ENST00000342175.11:c.34085A>T (TTN)	ENSP00000340554.6:p.His11362Leu
ENST00000359218.10:c.33884A>T (TTN)	ENSP00000352154.5:p.His11295Leu
ENST00000342175.10:c.34085A>T (TTN)	ENSP00000340554.6:p.His11362Leu
ENST00000342992.10:c.53000A>T (TTN)	ENSP00000343764.6:p.His17667Leu
ENST00000359218.9:c.33884A>T (TTN)	ENSP00000352154.5:p.His11295Leu
ENST00000460472.6:c.33509A>T (TTN)	ENSP00000434586.1:p.His11170Leu
ENST00000589042.5:c.60704A>T (TTN) MANE Select	ENSP00000467141.1:p.His20235Leu
ENST00000591111.5:c.55781A>T (TTN)	ENSP00000465570.1:p.His18594Leu
ENST00000615779.4:c.55781A>T (TTN)	ENSP00000483597.1:p.His18594Leu
NM_001256850.1:c.55781A>T (TTN)	NP_001243779.1:p.His18594Leu
NM_001267550.2:c.60704A>T (TTN) MANE Select	NP_001254479.2:p.His20235Leu
NM_003319.4:c.33509A>T (TTN)	NP_003310.4:p.His11170Leu
NM_133378.4:c.53000A>T (TTN)	NP_596869.4:p.His17667Leu
NM_133432.3:c.33884A>T (TTN)	NP_597676.3:p.His11295Leu
NM_133437.4:c.34085A>T (TTN)	NP_597681.4:p.His11362Leu
NR_038271.1:n.597-6575T>A (TTN-AS1)
NR_038272.1:n.3189-118T>A (TTN-AS1)
XM_011511729.1:c.59801A>T (TTN)	XP_011510031.1:p.His19934Leu
XM_011511730.1:c.33695A>T (TTN)	XP_011510032.1:p.His11232Leu
XM_011511731.1:c.33554A>T (TTN)	XP_011510033.1:p.His11185Leu
XM_017004819.1:c.59597A>T (TTN)	XP_016860308.1:p.His19866Leu
XM_017004820.1:c.54995A>T (TTN)	XP_016860309.1:p.His18332Leu
XM_017004821.1:c.54992A>T (TTN)	XP_016860310.1:p.His18331Leu
XM_017004822.1:c.52034A>T (TTN)	XP_016860311.1:p.His17345Leu
XM_017004823.1:c.33650A>T (TTN)	XP_016860312.1:p.His11217Leu
XM_024453094.1:c.55145A>T (TTN)	XP_024308862.1:p.His18382Leu
XM_024453095.1:c.55142A>T (TTN)	XP_024308863.1:p.His18381Leu
XM_024453096.1:c.54575A>T (TTN)	XP_024308864.1:p.His18192Leu
XM_024453097.1:c.51917A>T (TTN)	XP_024308865.1:p.His17306Leu
XM_024453098.1:c.51836A>T (TTN)	XP_024308866.1:p.His17279Leu
XM_024453099.1:c.33599A>T (TTN)	XP_024308867.1:p.His11200Leu
XM_024453100.1:c.23453A>T (TTN)	XP_024308868.1:p.His7818Leu