Canonical Allele Identifier: CA349501130

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179415783T>A (hg19) ; chr2:g.178551056T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551056T>A , CM000664.2:g.178551056T>A	GRCh38
NC_000002.11:g.179415783T>A , CM000664.1:g.179415783T>A	GRCh37
NC_000002.10:g.179124029T>A	NCBI36
NG_011618.3:g.284747A>T , LRG_391:g.284747A>T
NG_051363.1:g.33230T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.83771A>T (TTN)	ENSP00000343764.6:p.Tyr27924Phe
ENST00000342175.11:c.64856A>T (TTN)	ENSP00000340554.6:p.Tyr21619Phe
ENST00000359218.10:c.64655A>T (TTN)	ENSP00000352154.5:p.Tyr21552Phe
ENST00000342175.10:c.64856A>T (TTN)	ENSP00000340554.6:p.Tyr21619Phe
ENST00000342992.10:c.83771A>T (TTN)	ENSP00000343764.6:p.Tyr27924Phe
ENST00000359218.9:c.64655A>T (TTN)	ENSP00000352154.5:p.Tyr21552Phe
ENST00000460472.6:c.64280A>T (TTN)	ENSP00000434586.1:p.Tyr21427Phe
ENST00000589042.5:c.91475A>T (TTN) MANE Select	ENSP00000467141.1:p.Tyr30492Phe
ENST00000591111.5:c.86552A>T (TTN)	ENSP00000465570.1:p.Tyr28851Phe
ENST00000615779.4:c.86552A>T (TTN)	ENSP00000483597.1:p.Tyr28851Phe
NM_001256850.1:c.86552A>T (TTN)	NP_001243779.1:p.Tyr28851Phe
NM_001267550.2:c.91475A>T (TTN) MANE Select	NP_001254479.2:p.Tyr30492Phe
NM_003319.4:c.64280A>T (TTN)	NP_003310.4:p.Tyr21427Phe
NM_133378.4:c.83771A>T (TTN)	NP_596869.4:p.Tyr27924Phe
NM_133432.3:c.64655A>T (TTN)	NP_597676.3:p.Tyr21552Phe
NM_133437.4:c.64856A>T (TTN)	NP_597681.4:p.Tyr21619Phe
NR_038271.1:n.447-20244T>A (TTN-AS1)
NR_038272.1:n.2043+8695T>A (TTN-AS1)
XM_011511729.1:c.90572A>T (TTN)	XP_011510031.1:p.Tyr30191Phe
XM_011511730.1:c.64466A>T (TTN)	XP_011510032.1:p.Tyr21489Phe
XM_011511731.1:c.64325A>T (TTN)	XP_011510033.1:p.Tyr21442Phe
XM_017004819.1:c.90368A>T (TTN)	XP_016860308.1:p.Tyr30123Phe
XM_017004820.1:c.85766A>T (TTN)	XP_016860309.1:p.Tyr28589Phe
XM_017004821.1:c.85763A>T (TTN)	XP_016860310.1:p.Tyr28588Phe
XM_017004822.1:c.82805A>T (TTN)	XP_016860311.1:p.Tyr27602Phe
XM_017004823.1:c.64421A>T (TTN)	XP_016860312.1:p.Tyr21474Phe
XM_024453094.1:c.85916A>T (TTN)	XP_024308862.1:p.Tyr28639Phe
XM_024453095.1:c.85913A>T (TTN)	XP_024308863.1:p.Tyr28638Phe
XM_024453096.1:c.85346A>T (TTN)	XP_024308864.1:p.Tyr28449Phe
XM_024453097.1:c.82688A>T (TTN)	XP_024308865.1:p.Tyr27563Phe
XM_024453098.1:c.82607A>T (TTN)	XP_024308866.1:p.Tyr27536Phe
XM_024453099.1:c.64370A>T (TTN)	XP_024308867.1:p.Tyr21457Phe
XM_024453100.1:c.54224A>T (TTN)	XP_024308868.1:p.Tyr18075Phe