Canonical Allele Identifier: CA349622445

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM476506 ; COSM476507 ; COSM476508 ; COSM1136490
• MyVariant Identifiers: chr2:g.179483509G>T (hg19) ; chr2:g.178618782G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618782G>T , CM000664.2:g.178618782G>T	GRCh38
NC_000002.11:g.179483509G>T , CM000664.1:g.179483509G>T	GRCh37
NC_000002.10:g.179191754G>T	NCBI36
NG_011618.3:g.217021C>A , LRG_391:g.217021C>A
NG_051363.1:g.100956G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39064C>A (TTN)	ENSP00000343764.6:p.Pro13022Thr
ENST00000342175.11:c.20149C>A (TTN)	ENSP00000340554.6:p.Pro6717Thr
ENST00000359218.10:c.19948C>A (TTN)	ENSP00000352154.5:p.Pro6650Thr
ENST00000342175.10:c.20149C>A (TTN)	ENSP00000340554.6:p.Pro6717Thr
ENST00000342992.10:c.39064C>A (TTN)	ENSP00000343764.6:p.Pro13022Thr
ENST00000359218.9:c.19948C>A (TTN)	ENSP00000352154.5:p.Pro6650Thr
ENST00000460472.6:c.19573C>A (TTN)	ENSP00000434586.1:p.Pro6525Thr
ENST00000589042.5:c.46768C>A (TTN) MANE Select	ENSP00000467141.1:p.Pro15590Thr
ENST00000591111.5:c.41845C>A (TTN)	ENSP00000465570.1:p.Pro13949Thr
ENST00000615779.4:c.41845C>A (TTN)	ENSP00000483597.1:p.Pro13949Thr
NM_001256850.1:c.41845C>A (TTN)	NP_001243779.1:p.Pro13949Thr
NM_001267550.2:c.46768C>A (TTN) MANE Select	NP_001254479.2:p.Pro15590Thr
NM_003319.4:c.19573C>A (TTN)	NP_003310.4:p.Pro6525Thr
NM_133378.4:c.39064C>A (TTN)	NP_596869.4:p.Pro13022Thr
NM_133432.3:c.19948C>A (TTN)	NP_597676.3:p.Pro6650Thr
NM_133437.4:c.20149C>A (TTN)	NP_597681.4:p.Pro6717Thr
NR_038271.1:n.1605-971G>T (TTN-AS1)
XM_011511729.1:c.45865C>A (TTN)	XP_011510031.1:p.Pro15289Thr
XM_011511730.1:c.19759C>A (TTN)	XP_011510032.1:p.Pro6587Thr
XM_011511731.1:c.19618C>A (TTN)	XP_011510033.1:p.Pro6540Thr
XM_017004819.1:c.45661C>A (TTN)	XP_016860308.1:p.Pro15221Thr
XM_017004820.1:c.41059C>A (TTN)	XP_016860309.1:p.Pro13687Thr
XM_017004821.1:c.41056C>A (TTN)	XP_016860310.1:p.Pro13686Thr
XM_017004822.1:c.38098C>A (TTN)	XP_016860311.1:p.Pro12700Thr
XM_017004823.1:c.19714C>A (TTN)	XP_016860312.1:p.Pro6572Thr
XM_024453094.1:c.41209C>A (TTN)	XP_024308862.1:p.Pro13737Thr
XM_024453095.1:c.41206C>A (TTN)	XP_024308863.1:p.Pro13736Thr
XM_024453096.1:c.40639C>A (TTN)	XP_024308864.1:p.Pro13547Thr
XM_024453097.1:c.37981C>A (TTN)	XP_024308865.1:p.Pro12661Thr
XM_024453098.1:c.37900C>A (TTN)	XP_024308866.1:p.Pro12634Thr
XM_024453099.1:c.19663C>A (TTN)	XP_024308867.1:p.Pro6555Thr
XM_024453100.1:c.9517C>A (TTN)	XP_024308868.1:p.Pro3173Thr