Canonical Allele Identifier: CA349457041

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179409123C>A (hg19) ; chr2:g.178544396C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544396C>A , CM000664.2:g.178544396C>A	GRCh38
NC_000002.11:g.179409123C>A , CM000664.1:g.179409123C>A	GRCh37
NC_000002.10:g.179117369C>A	NCBI36
NG_011618.3:g.291407G>T , LRG_391:g.291407G>T
NG_051363.1:g.26570C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88129G>T (TTN)	ENSP00000343764.6:p.Val29377Phe
ENST00000342175.11:c.69214G>T (TTN)	ENSP00000340554.6:p.Val23072Phe
ENST00000359218.10:c.69013G>T (TTN)	ENSP00000352154.5:p.Val23005Phe
ENST00000342175.10:c.69214G>T (TTN)	ENSP00000340554.6:p.Val23072Phe
ENST00000342992.10:c.88129G>T (TTN)	ENSP00000343764.6:p.Val29377Phe
ENST00000359218.9:c.69013G>T (TTN)	ENSP00000352154.5:p.Val23005Phe
ENST00000460472.6:c.68638G>T (TTN)	ENSP00000434586.1:p.Val22880Phe
ENST00000589042.5:c.95833G>T (TTN) MANE Select	ENSP00000467141.1:p.Val31945Phe
ENST00000591111.5:c.90910G>T (TTN)	ENSP00000465570.1:p.Val30304Phe
ENST00000615779.4:c.90910G>T (TTN)	ENSP00000483597.1:p.Val30304Phe
NM_001256850.1:c.90910G>T (TTN)	NP_001243779.1:p.Val30304Phe
NM_001267550.2:c.95833G>T (TTN) MANE Select	NP_001254479.2:p.Val31945Phe
NM_003319.4:c.68638G>T (TTN)	NP_003310.4:p.Val22880Phe
NM_133378.4:c.88129G>T (TTN)	NP_596869.4:p.Val29377Phe
NM_133432.3:c.69013G>T (TTN)	NP_597676.3:p.Val23005Phe
NM_133437.4:c.69214G>T (TTN)	NP_597681.4:p.Val23072Phe
NR_038271.1:n.446+20760C>A (TTN-AS1)
NR_038272.1:n.2043+2035C>A (TTN-AS1)
XM_011511729.1:c.94930G>T (TTN)	XP_011510031.1:p.Val31644Phe
XM_011511730.1:c.68824G>T (TTN)	XP_011510032.1:p.Val22942Phe
XM_011511731.1:c.68683G>T (TTN)	XP_011510033.1:p.Val22895Phe
XM_017004819.1:c.94726G>T (TTN)	XP_016860308.1:p.Val31576Phe
XM_017004820.1:c.90124G>T (TTN)	XP_016860309.1:p.Val30042Phe
XM_017004821.1:c.90121G>T (TTN)	XP_016860310.1:p.Val30041Phe
XM_017004822.1:c.87163G>T (TTN)	XP_016860311.1:p.Val29055Phe
XM_017004823.1:c.68779G>T (TTN)	XP_016860312.1:p.Val22927Phe
XM_024453094.1:c.90274G>T (TTN)	XP_024308862.1:p.Val30092Phe
XM_024453095.1:c.90271G>T (TTN)	XP_024308863.1:p.Val30091Phe
XM_024453096.1:c.89704G>T (TTN)	XP_024308864.1:p.Val29902Phe
XM_024453097.1:c.87046G>T (TTN)	XP_024308865.1:p.Val29016Phe
XM_024453098.1:c.86965G>T (TTN)	XP_024308866.1:p.Val28989Phe
XM_024453099.1:c.68728G>T (TTN)	XP_024308867.1:p.Val22910Phe
XM_024453100.1:c.58582G>T (TTN)	XP_024308868.1:p.Val19528Phe