Canonical Allele Identifier: CA349604980

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs200121902
• MyVariant Identifiers: chr2:g.179478653G>A (hg19) ; chr2:g.178613926G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178613926G>A , CM000664.2:g.178613926G>A	GRCh38
NC_000002.11:g.179478653G>A , CM000664.1:g.179478653G>A	GRCh37
NC_000002.10:g.179186898G>A	NCBI36
NG_011618.3:g.221877C>T , LRG_391:g.221877C>T
NG_051363.1:g.96100G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.41653C>T (TTN)	ENSP00000343764.6:p.Pro13885Ser
ENST00000342175.11:c.22738C>T (TTN)	ENSP00000340554.6:p.Pro7580Ser
ENST00000359218.10:c.22537C>T (TTN)	ENSP00000352154.5:p.Pro7513Ser
ENST00000342175.10:c.22738C>T (TTN)	ENSP00000340554.6:p.Pro7580Ser
ENST00000342992.10:c.41653C>T (TTN)	ENSP00000343764.6:p.Pro13885Ser
ENST00000359218.9:c.22537C>T (TTN)	ENSP00000352154.5:p.Pro7513Ser
ENST00000460472.6:c.22162C>T (TTN)	ENSP00000434586.1:p.Pro7388Ser
ENST00000589042.5:c.49357C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro16453Ser
ENST00000591111.5:c.44434C>T (TTN)	ENSP00000465570.1:p.Pro14812Ser
ENST00000615779.4:c.44434C>T (TTN)	ENSP00000483597.1:p.Pro14812Ser
NM_001256850.1:c.44434C>T (TTN)	NP_001243779.1:p.Pro14812Ser
NM_001267550.2:c.49357C>T (TTN) MANE Select	NP_001254479.2:p.Pro16453Ser
NM_003319.4:c.22162C>T (TTN)	NP_003310.4:p.Pro7388Ser
NM_133378.4:c.41653C>T (TTN)	NP_596869.4:p.Pro13885Ser
NM_133432.3:c.22537C>T (TTN)	NP_597676.3:p.Pro7513Ser
NM_133437.4:c.22738C>T (TTN)	NP_597681.4:p.Pro7580Ser
NR_038271.1:n.783-109G>A (TTN-AS1)
XM_011511729.1:c.48454C>T (TTN)	XP_011510031.1:p.Pro16152Ser
XM_011511730.1:c.22348C>T (TTN)	XP_011510032.1:p.Pro7450Ser
XM_011511731.1:c.22207C>T (TTN)	XP_011510033.1:p.Pro7403Ser
XM_017004819.1:c.48250C>T (TTN)	XP_016860308.1:p.Pro16084Ser
XM_017004820.1:c.43648C>T (TTN)	XP_016860309.1:p.Pro14550Ser
XM_017004821.1:c.43645C>T (TTN)	XP_016860310.1:p.Pro14549Ser
XM_017004822.1:c.40687C>T (TTN)	XP_016860311.1:p.Pro13563Ser
XM_017004823.1:c.22303C>T (TTN)	XP_016860312.1:p.Pro7435Ser
XM_024453094.1:c.43798C>T (TTN)	XP_024308862.1:p.Pro14600Ser
XM_024453095.1:c.43795C>T (TTN)	XP_024308863.1:p.Pro14599Ser
XM_024453096.1:c.43228C>T (TTN)	XP_024308864.1:p.Pro14410Ser
XM_024453097.1:c.40570C>T (TTN)	XP_024308865.1:p.Pro13524Ser
XM_024453098.1:c.40489C>T (TTN)	XP_024308866.1:p.Pro13497Ser
XM_024453099.1:c.22252C>T (TTN)	XP_024308867.1:p.Pro7418Ser
XM_024453100.1:c.12106C>T (TTN)	XP_024308868.1:p.Pro4036Ser