Canonical Allele Identifier: CA349604982

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179478653G>C (hg19) ; chr2:g.178613926G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.41653C>G (TTN)	ENSP00000343764.6:p.Pro13885Ala
ENST00000342175.11:c.22738C>G (TTN)	ENSP00000340554.6:p.Pro7580Ala
ENST00000359218.10:c.22537C>G (TTN)	ENSP00000352154.5:p.Pro7513Ala
ENST00000342175.10:c.22738C>G (TTN)	ENSP00000340554.6:p.Pro7580Ala
ENST00000342992.10:c.41653C>G (TTN)	ENSP00000343764.6:p.Pro13885Ala
ENST00000359218.9:c.22537C>G (TTN)	ENSP00000352154.5:p.Pro7513Ala
ENST00000460472.6:c.22162C>G (TTN)	ENSP00000434586.1:p.Pro7388Ala
ENST00000589042.5:c.49357C>G (TTN) MANE Select	ENSP00000467141.1:p.Pro16453Ala
ENST00000591111.5:c.44434C>G (TTN)	ENSP00000465570.1:p.Pro14812Ala
ENST00000615779.4:c.44434C>G (TTN)	ENSP00000483597.1:p.Pro14812Ala
NM_001256850.1:c.44434C>G (TTN)	NP_001243779.1:p.Pro14812Ala
NM_001267550.2:c.49357C>G (TTN) MANE Select	NP_001254479.2:p.Pro16453Ala
NM_003319.4:c.22162C>G (TTN)	NP_003310.4:p.Pro7388Ala
NM_133378.4:c.41653C>G (TTN)	NP_596869.4:p.Pro13885Ala
NM_133432.3:c.22537C>G (TTN)	NP_597676.3:p.Pro7513Ala
NM_133437.4:c.22738C>G (TTN)	NP_597681.4:p.Pro7580Ala
NR_038271.1:n.783-109G>C (TTN-AS1)
XM_011511729.1:c.48454C>G (TTN)	XP_011510031.1:p.Pro16152Ala
XM_011511730.1:c.22348C>G (TTN)	XP_011510032.1:p.Pro7450Ala
XM_011511731.1:c.22207C>G (TTN)	XP_011510033.1:p.Pro7403Ala
XM_017004819.1:c.48250C>G (TTN)	XP_016860308.1:p.Pro16084Ala
XM_017004820.1:c.43648C>G (TTN)	XP_016860309.1:p.Pro14550Ala
XM_017004821.1:c.43645C>G (TTN)	XP_016860310.1:p.Pro14549Ala
XM_017004822.1:c.40687C>G (TTN)	XP_016860311.1:p.Pro13563Ala
XM_017004823.1:c.22303C>G (TTN)	XP_016860312.1:p.Pro7435Ala
XM_024453094.1:c.43798C>G (TTN)	XP_024308862.1:p.Pro14600Ala
XM_024453095.1:c.43795C>G (TTN)	XP_024308863.1:p.Pro14599Ala
XM_024453096.1:c.43228C>G (TTN)	XP_024308864.1:p.Pro14410Ala
XM_024453097.1:c.40570C>G (TTN)	XP_024308865.1:p.Pro13524Ala
XM_024453098.1:c.40489C>G (TTN)	XP_024308866.1:p.Pro13497Ala
XM_024453099.1:c.22252C>G (TTN)	XP_024308867.1:p.Pro7418Ala
XM_024453100.1:c.12106C>G (TTN)	XP_024308868.1:p.Pro4036Ala