Canonical Allele Identifier: CA349622442

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM6365351 ; COSM6365352 ; COSM6365353 ; COSM6365354
• MyVariant Identifiers: chr2:g.179483509G>A (hg19) ; chr2:g.178618782G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39064C>T (TTN)	ENSP00000343764.6:p.Pro13022Ser
ENST00000342175.11:c.20149C>T (TTN)	ENSP00000340554.6:p.Pro6717Ser
ENST00000359218.10:c.19948C>T (TTN)	ENSP00000352154.5:p.Pro6650Ser
ENST00000342175.10:c.20149C>T (TTN)	ENSP00000340554.6:p.Pro6717Ser
ENST00000342992.10:c.39064C>T (TTN)	ENSP00000343764.6:p.Pro13022Ser
ENST00000359218.9:c.19948C>T (TTN)	ENSP00000352154.5:p.Pro6650Ser
ENST00000460472.6:c.19573C>T (TTN)	ENSP00000434586.1:p.Pro6525Ser
ENST00000589042.5:c.46768C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro15590Ser
ENST00000591111.5:c.41845C>T (TTN)	ENSP00000465570.1:p.Pro13949Ser
ENST00000615779.4:c.41845C>T (TTN)	ENSP00000483597.1:p.Pro13949Ser
NM_001256850.1:c.41845C>T (TTN)	NP_001243779.1:p.Pro13949Ser
NM_001267550.2:c.46768C>T (TTN) MANE Select	NP_001254479.2:p.Pro15590Ser
NM_003319.4:c.19573C>T (TTN)	NP_003310.4:p.Pro6525Ser
NM_133378.4:c.39064C>T (TTN)	NP_596869.4:p.Pro13022Ser
NM_133432.3:c.19948C>T (TTN)	NP_597676.3:p.Pro6650Ser
NM_133437.4:c.20149C>T (TTN)	NP_597681.4:p.Pro6717Ser
NR_038271.1:n.1605-971G>A (TTN-AS1)
XM_011511729.1:c.45865C>T (TTN)	XP_011510031.1:p.Pro15289Ser
XM_011511730.1:c.19759C>T (TTN)	XP_011510032.1:p.Pro6587Ser
XM_011511731.1:c.19618C>T (TTN)	XP_011510033.1:p.Pro6540Ser
XM_017004819.1:c.45661C>T (TTN)	XP_016860308.1:p.Pro15221Ser
XM_017004820.1:c.41059C>T (TTN)	XP_016860309.1:p.Pro13687Ser
XM_017004821.1:c.41056C>T (TTN)	XP_016860310.1:p.Pro13686Ser
XM_017004822.1:c.38098C>T (TTN)	XP_016860311.1:p.Pro12700Ser
XM_017004823.1:c.19714C>T (TTN)	XP_016860312.1:p.Pro6572Ser
XM_024453094.1:c.41209C>T (TTN)	XP_024308862.1:p.Pro13737Ser
XM_024453095.1:c.41206C>T (TTN)	XP_024308863.1:p.Pro13736Ser
XM_024453096.1:c.40639C>T (TTN)	XP_024308864.1:p.Pro13547Ser
XM_024453097.1:c.37981C>T (TTN)	XP_024308865.1:p.Pro12661Ser
XM_024453098.1:c.37900C>T (TTN)	XP_024308866.1:p.Pro12634Ser
XM_024453099.1:c.19663C>T (TTN)	XP_024308867.1:p.Pro6555Ser
XM_024453100.1:c.9517C>T (TTN)	XP_024308868.1:p.Pro3173Ser