Canonical Allele Identifier: CA349434902

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178540076T>G , CM000664.2:g.178540076T>G GRCh38
NC_000002.11:g.179404803T>G , CM000664.1:g.179404803T>G GRCh37
NC_000002.10:g.179113049T>G NCBI36
NG_011618.3:g.295727A>C , LRG_391:g.295727A>C
NG_051363.1:g.22250T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.90386A>C (TTN) ENSP00000343764.6:p.Glu30129Ala
ENST00000342175.11:c.71471A>C (TTN) ENSP00000340554.6:p.Glu23824Ala
ENST00000359218.10:c.71270A>C (TTN) ENSP00000352154.5:p.Glu23757Ala
ENST00000342175.10:c.71471A>C (TTN) ENSP00000340554.6:p.Glu23824Ala
ENST00000342992.10:c.90386A>C (TTN) ENSP00000343764.6:p.Glu30129Ala
ENST00000359218.9:c.71270A>C (TTN) ENSP00000352154.5:p.Glu23757Ala
ENST00000460472.6:c.70895A>C (TTN) ENSP00000434586.1:p.Glu23632Ala
ENST00000589042.5:c.98090A>C (TTN) MANE Select ENSP00000467141.1:p.Glu32697Ala
ENST00000591111.5:c.93167A>C (TTN) ENSP00000465570.1:p.Glu31056Ala
ENST00000615779.4:c.93167A>C (TTN) ENSP00000483597.1:p.Glu31056Ala
NM_001256850.1:c.93167A>C (TTN) NP_001243779.1:p.Glu31056Ala
NM_001267550.2:c.98090A>C (TTN) MANE Select NP_001254479.2:p.Glu32697Ala
NM_003319.4:c.70895A>C (TTN) NP_003310.4:p.Glu23632Ala
NM_133378.4:c.90386A>C (TTN) NP_596869.4:p.Glu30129Ala
NM_133432.3:c.71270A>C (TTN) NP_597676.3:p.Glu23757Ala
NM_133437.4:c.71471A>C (TTN) NP_597681.4:p.Glu23824Ala
NR_038271.1:n.446+16440T>G (TTN-AS1)
NR_038272.1:n.1841-31T>G (TTN-AS1)
XM_011511729.1:c.97187A>C (TTN) XP_011510031.1:p.Glu32396Ala
XM_011511730.1:c.71081A>C (TTN) XP_011510032.1:p.Glu23694Ala
XM_011511731.1:c.70940A>C (TTN) XP_011510033.1:p.Glu23647Ala
XM_017004819.1:c.96983A>C (TTN) XP_016860308.1:p.Glu32328Ala
XM_017004820.1:c.92381A>C (TTN) XP_016860309.1:p.Glu30794Ala
XM_017004821.1:c.92378A>C (TTN) XP_016860310.1:p.Glu30793Ala
XM_017004822.1:c.89420A>C (TTN) XP_016860311.1:p.Glu29807Ala
XM_017004823.1:c.71036A>C (TTN) XP_016860312.1:p.Glu23679Ala
XM_024453094.1:c.92531A>C (TTN) XP_024308862.1:p.Glu30844Ala
XM_024453095.1:c.92528A>C (TTN) XP_024308863.1:p.Glu30843Ala
XM_024453096.1:c.91961A>C (TTN) XP_024308864.1:p.Glu30654Ala
XM_024453097.1:c.89303A>C (TTN) XP_024308865.1:p.Glu29768Ala
XM_024453098.1:c.89222A>C (TTN) XP_024308866.1:p.Glu29741Ala
XM_024453099.1:c.70985A>C (TTN) XP_024308867.1:p.Glu23662Ala
XM_024453100.1:c.60839A>C (TTN) XP_024308868.1:p.Glu20280Ala