Canonical Allele Identifier: CA349564266

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179427040T>A (hg19) ; chr2:g.178562313T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178562313T>A , CM000664.2:g.178562313T>A	GRCh38
NC_000002.11:g.179427040T>A , CM000664.1:g.179427040T>A	GRCh37
NC_000002.10:g.179135286T>A	NCBI36
NG_011618.3:g.273490A>T , LRG_391:g.273490A>T
NG_051363.1:g.44487T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.76115A>T (TTN)	ENSP00000343764.6:p.Asn25372Ile
ENST00000342175.11:c.57200A>T (TTN)	ENSP00000340554.6:p.Asn19067Ile
ENST00000359218.10:c.56999A>T (TTN)	ENSP00000352154.5:p.Asn19000Ile
ENST00000342175.10:c.57200A>T (TTN)	ENSP00000340554.6:p.Asn19067Ile
ENST00000342992.10:c.76115A>T (TTN)	ENSP00000343764.6:p.Asn25372Ile
ENST00000359218.9:c.56999A>T (TTN)	ENSP00000352154.5:p.Asn19000Ile
ENST00000460472.6:c.56624A>T (TTN)	ENSP00000434586.1:p.Asn18875Ile
ENST00000589042.5:c.83819A>T (TTN) MANE Select	ENSP00000467141.1:p.Asn27940Ile
ENST00000591111.5:c.78896A>T (TTN)	ENSP00000465570.1:p.Asn26299Ile
ENST00000615779.4:c.78896A>T (TTN)	ENSP00000483597.1:p.Asn26299Ile
NM_001256850.1:c.78896A>T (TTN)	NP_001243779.1:p.Asn26299Ile
NM_001267550.2:c.83819A>T (TTN) MANE Select	NP_001254479.2:p.Asn27940Ile
NM_003319.4:c.56624A>T (TTN)	NP_003310.4:p.Asn18875Ile
NM_133378.4:c.76115A>T (TTN)	NP_596869.4:p.Asn25372Ile
NM_133432.3:c.56999A>T (TTN)	NP_597676.3:p.Asn19000Ile
NM_133437.4:c.57200A>T (TTN)	NP_597681.4:p.Asn19067Ile
NR_038271.1:n.447-8987T>A (TTN-AS1)
NR_038272.1:n.2043+19952T>A (TTN-AS1)
XM_011511729.1:c.82916A>T (TTN)	XP_011510031.1:p.Asn27639Ile
XM_011511730.1:c.56810A>T (TTN)	XP_011510032.1:p.Asn18937Ile
XM_011511731.1:c.56669A>T (TTN)	XP_011510033.1:p.Asn18890Ile
XM_017004819.1:c.82712A>T (TTN)	XP_016860308.1:p.Asn27571Ile
XM_017004820.1:c.78110A>T (TTN)	XP_016860309.1:p.Asn26037Ile
XM_017004821.1:c.78107A>T (TTN)	XP_016860310.1:p.Asn26036Ile
XM_017004822.1:c.75149A>T (TTN)	XP_016860311.1:p.Asn25050Ile
XM_017004823.1:c.56765A>T (TTN)	XP_016860312.1:p.Asn18922Ile
XM_024453094.1:c.78260A>T (TTN)	XP_024308862.1:p.Asn26087Ile
XM_024453095.1:c.78257A>T (TTN)	XP_024308863.1:p.Asn26086Ile
XM_024453096.1:c.77690A>T (TTN)	XP_024308864.1:p.Asn25897Ile
XM_024453097.1:c.75032A>T (TTN)	XP_024308865.1:p.Asn25011Ile
XM_024453098.1:c.74951A>T (TTN)	XP_024308866.1:p.Asn24984Ile
XM_024453099.1:c.56714A>T (TTN)	XP_024308867.1:p.Asn18905Ile
XM_024453100.1:c.46568A>T (TTN)	XP_024308868.1:p.Asn15523Ile