Canonical Allele Identifier: CA349472625

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179411602A>T (hg19) ; chr2:g.178546875A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546875A>T , CM000664.2:g.178546875A>T	GRCh38
NC_000002.11:g.179411602A>T , CM000664.1:g.179411602A>T	GRCh37
NC_000002.10:g.179119848A>T	NCBI36
NG_011618.3:g.288928T>A , LRG_391:g.288928T>A
NG_051363.1:g.29049A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86849T>A (TTN)	ENSP00000343764.6:p.Val28950Asp
ENST00000342175.11:c.67934T>A (TTN)	ENSP00000340554.6:p.Val22645Asp
ENST00000359218.10:c.67733T>A (TTN)	ENSP00000352154.5:p.Val22578Asp
ENST00000342175.10:c.67934T>A (TTN)	ENSP00000340554.6:p.Val22645Asp
ENST00000342992.10:c.86849T>A (TTN)	ENSP00000343764.6:p.Val28950Asp
ENST00000359218.9:c.67733T>A (TTN)	ENSP00000352154.5:p.Val22578Asp
ENST00000460472.6:c.67358T>A (TTN)	ENSP00000434586.1:p.Val22453Asp
ENST00000589042.5:c.94553T>A (TTN) MANE Select	ENSP00000467141.1:p.Val31518Asp
ENST00000591111.5:c.89630T>A (TTN)	ENSP00000465570.1:p.Val29877Asp
ENST00000615779.4:c.89630T>A (TTN)	ENSP00000483597.1:p.Val29877Asp
NM_001256850.1:c.89630T>A (TTN)	NP_001243779.1:p.Val29877Asp
NM_001267550.2:c.94553T>A (TTN) MANE Select	NP_001254479.2:p.Val31518Asp
NM_003319.4:c.67358T>A (TTN)	NP_003310.4:p.Val22453Asp
NM_133378.4:c.86849T>A (TTN)	NP_596869.4:p.Val28950Asp
NM_133432.3:c.67733T>A (TTN)	NP_597676.3:p.Val22578Asp
NM_133437.4:c.67934T>A (TTN)	NP_597681.4:p.Val22645Asp
NR_038271.1:n.446+23239A>T (TTN-AS1)
NR_038272.1:n.2043+4514A>T (TTN-AS1)
XM_011511729.1:c.93650T>A (TTN)	XP_011510031.1:p.Val31217Asp
XM_011511730.1:c.67544T>A (TTN)	XP_011510032.1:p.Val22515Asp
XM_011511731.1:c.67403T>A (TTN)	XP_011510033.1:p.Val22468Asp
XM_017004819.1:c.93446T>A (TTN)	XP_016860308.1:p.Val31149Asp
XM_017004820.1:c.88844T>A (TTN)	XP_016860309.1:p.Val29615Asp
XM_017004821.1:c.88841T>A (TTN)	XP_016860310.1:p.Val29614Asp
XM_017004822.1:c.85883T>A (TTN)	XP_016860311.1:p.Val28628Asp
XM_017004823.1:c.67499T>A (TTN)	XP_016860312.1:p.Val22500Asp
XM_024453094.1:c.88994T>A (TTN)	XP_024308862.1:p.Val29665Asp
XM_024453095.1:c.88991T>A (TTN)	XP_024308863.1:p.Val29664Asp
XM_024453096.1:c.88424T>A (TTN)	XP_024308864.1:p.Val29475Asp
XM_024453097.1:c.85766T>A (TTN)	XP_024308865.1:p.Val28589Asp
XM_024453098.1:c.85685T>A (TTN)	XP_024308866.1:p.Val28562Asp
XM_024453099.1:c.67448T>A (TTN)	XP_024308867.1:p.Val22483Asp
XM_024453100.1:c.57302T>A (TTN)	XP_024308868.1:p.Val19101Asp