Canonical Allele Identifier: CA349657874

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179439524T>C (hg19) ; chr2:g.178574797T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178574797T>C , CM000664.2:g.178574797T>C	GRCh38
NC_000002.11:g.179439524T>C , CM000664.1:g.179439524T>C	GRCh37
NC_000002.10:g.179147770T>C	NCBI36
NG_011618.3:g.261006A>G , LRG_391:g.261006A>G
NG_051363.1:g.56971T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.63631A>G (TTN)	ENSP00000343764.6:p.Thr21211Ala
ENST00000342175.11:c.44716A>G (TTN)	ENSP00000340554.6:p.Thr14906Ala
ENST00000359218.10:c.44515A>G (TTN)	ENSP00000352154.5:p.Thr14839Ala
ENST00000342175.10:c.44716A>G (TTN)	ENSP00000340554.6:p.Thr14906Ala
ENST00000342992.10:c.63631A>G (TTN)	ENSP00000343764.6:p.Thr21211Ala
ENST00000359218.9:c.44515A>G (TTN)	ENSP00000352154.5:p.Thr14839Ala
ENST00000460472.6:c.44140A>G (TTN)	ENSP00000434586.1:p.Thr14714Ala
ENST00000589042.5:c.71335A>G (TTN) MANE Select	ENSP00000467141.1:p.Thr23779Ala
ENST00000591111.5:c.66412A>G (TTN)	ENSP00000465570.1:p.Thr22138Ala
ENST00000615779.4:c.66412A>G (TTN)	ENSP00000483597.1:p.Thr22138Ala
NM_001256850.1:c.66412A>G (TTN)	NP_001243779.1:p.Thr22138Ala
NM_001267550.2:c.71335A>G (TTN) MANE Select	NP_001254479.2:p.Thr23779Ala
NM_003319.4:c.44140A>G (TTN)	NP_003310.4:p.Thr14714Ala
NM_133378.4:c.63631A>G (TTN)	NP_596869.4:p.Thr21211Ala
NM_133432.3:c.44515A>G (TTN)	NP_597676.3:p.Thr14839Ala
NM_133437.4:c.44716A>G (TTN)	NP_597681.4:p.Thr14906Ala
NR_038271.1:n.596+3348T>C (TTN-AS1)
NR_038272.1:n.2044-7775T>C (TTN-AS1)
XM_011511729.1:c.70432A>G (TTN)	XP_011510031.1:p.Thr23478Ala
XM_011511730.1:c.44326A>G (TTN)	XP_011510032.1:p.Thr14776Ala
XM_011511731.1:c.44185A>G (TTN)	XP_011510033.1:p.Thr14729Ala
XM_017004819.1:c.70228A>G (TTN)	XP_016860308.1:p.Thr23410Ala
XM_017004820.1:c.65626A>G (TTN)	XP_016860309.1:p.Thr21876Ala
XM_017004821.1:c.65623A>G (TTN)	XP_016860310.1:p.Thr21875Ala
XM_017004822.1:c.62665A>G (TTN)	XP_016860311.1:p.Thr20889Ala
XM_017004823.1:c.44281A>G (TTN)	XP_016860312.1:p.Thr14761Ala
XM_024453094.1:c.65776A>G (TTN)	XP_024308862.1:p.Thr21926Ala
XM_024453095.1:c.65773A>G (TTN)	XP_024308863.1:p.Thr21925Ala
XM_024453096.1:c.65206A>G (TTN)	XP_024308864.1:p.Thr21736Ala
XM_024453097.1:c.62548A>G (TTN)	XP_024308865.1:p.Thr20850Ala
XM_024453098.1:c.62467A>G (TTN)	XP_024308866.1:p.Thr20823Ala
XM_024453099.1:c.44230A>G (TTN)	XP_024308867.1:p.Thr14744Ala
XM_024453100.1:c.34084A>G (TTN)	XP_024308868.1:p.Thr11362Ala