Canonical Allele Identifier: CA349512646

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179417395A>C (hg19) ; chr2:g.178552668A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552668A>C , CM000664.2:g.178552668A>C	GRCh38
NC_000002.11:g.179417395A>C , CM000664.1:g.179417395A>C	GRCh37
NC_000002.10:g.179125641A>C	NCBI36
NG_011618.3:g.283135T>G , LRG_391:g.283135T>G
NG_051363.1:g.34842A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.82528T>G (TTN)	ENSP00000343764.6:p.Ser27510Ala
ENST00000342175.11:c.63613T>G (TTN)	ENSP00000340554.6:p.Ser21205Ala
ENST00000359218.10:c.63412T>G (TTN)	ENSP00000352154.5:p.Ser21138Ala
ENST00000342175.10:c.63613T>G (TTN)	ENSP00000340554.6:p.Ser21205Ala
ENST00000342992.10:c.82528T>G (TTN)	ENSP00000343764.6:p.Ser27510Ala
ENST00000359218.9:c.63412T>G (TTN)	ENSP00000352154.5:p.Ser21138Ala
ENST00000460472.6:c.63037T>G (TTN)	ENSP00000434586.1:p.Ser21013Ala
ENST00000589042.5:c.90232T>G (TTN) MANE Select	ENSP00000467141.1:p.Ser30078Ala
ENST00000591111.5:c.85309T>G (TTN)	ENSP00000465570.1:p.Ser28437Ala
ENST00000615779.4:c.85309T>G (TTN)	ENSP00000483597.1:p.Ser28437Ala
NM_001256850.1:c.85309T>G (TTN)	NP_001243779.1:p.Ser28437Ala
NM_001267550.2:c.90232T>G (TTN) MANE Select	NP_001254479.2:p.Ser30078Ala
NM_003319.4:c.63037T>G (TTN)	NP_003310.4:p.Ser21013Ala
NM_133378.4:c.82528T>G (TTN)	NP_596869.4:p.Ser27510Ala
NM_133432.3:c.63412T>G (TTN)	NP_597676.3:p.Ser21138Ala
NM_133437.4:c.63613T>G (TTN)	NP_597681.4:p.Ser21205Ala
NR_038271.1:n.447-18632A>C (TTN-AS1)
NR_038272.1:n.2043+10307A>C (TTN-AS1)
XM_011511729.1:c.89329T>G (TTN)	XP_011510031.1:p.Ser29777Ala
XM_011511730.1:c.63223T>G (TTN)	XP_011510032.1:p.Ser21075Ala
XM_011511731.1:c.63082T>G (TTN)	XP_011510033.1:p.Ser21028Ala
XM_017004819.1:c.89125T>G (TTN)	XP_016860308.1:p.Ser29709Ala
XM_017004820.1:c.84523T>G (TTN)	XP_016860309.1:p.Ser28175Ala
XM_017004821.1:c.84520T>G (TTN)	XP_016860310.1:p.Ser28174Ala
XM_017004822.1:c.81562T>G (TTN)	XP_016860311.1:p.Ser27188Ala
XM_017004823.1:c.63178T>G (TTN)	XP_016860312.1:p.Ser21060Ala
XM_024453094.1:c.84673T>G (TTN)	XP_024308862.1:p.Ser28225Ala
XM_024453095.1:c.84670T>G (TTN)	XP_024308863.1:p.Ser28224Ala
XM_024453096.1:c.84103T>G (TTN)	XP_024308864.1:p.Ser28035Ala
XM_024453097.1:c.81445T>G (TTN)	XP_024308865.1:p.Ser27149Ala
XM_024453098.1:c.81364T>G (TTN)	XP_024308866.1:p.Ser27122Ala
XM_024453099.1:c.63127T>G (TTN)	XP_024308867.1:p.Ser21043Ala
XM_024453100.1:c.52981T>G (TTN)	XP_024308868.1:p.Ser17661Ala