Canonical Allele Identifier: CA283224
Community Standard Title: NM_001267550.2(TTN):c.42783A>G (p.Lys14261=)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178633576T>C , CM000664.2:g.178633576T>C GRCh38
NC_000002.11:g.179498303T>C , CM000664.1:g.179498303T>C GRCh37
NC_000002.10:g.179206548T>C NCBI36
NG_011618.3:g.202227A>G , LRG_391:g.202227A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.42783A>G MANE Select NP_001254479.2:p.Lys14261=
ENST00000589042.5:c.42783A>G MANE Select ENSP00000467141.1:p.Lys14261=
NM_001256850.1:c.37860A>G NP_001243779.1:p.Lys12620=
NM_003319.4:c.15588A>G NP_003310.4:p.Lys5196=
NM_133378.4:c.35079A>G NP_596869.4:p.Lys11693=
NM_133432.3:c.15963A>G NP_597676.3:p.Lys5321=
NM_133437.4:c.16164A>G NP_597681.4:p.Lys5388=
ENST00000342175.10:c.16164A>G ENSP00000340554.6:p.Lys5388=
ENST00000342175.11:c.16164A>G ENSP00000340554.6:p.Lys5388=
ENST00000342992.10:c.35079A>G ENSP00000343764.6:p.Lys11693=
ENST00000342992.11:c.35079A>G ENSP00000343764.6:p.Lys11693=
ENST00000359218.10:c.15963A>G ENSP00000352154.5:p.Lys5321=
ENST00000359218.9:c.15963A>G ENSP00000352154.5:p.Lys5321=
ENST00000460472.6:c.15588A>G ENSP00000434586.1:p.Lys5196=
ENST00000591111.5:c.37860A>G ENSP00000465570.1:p.Lys12620=
ENST00000615779.4:c.37860A>G ENSP00000483597.1:p.Lys12620=
XM_011511729.1:c.41880A>G XP_011510031.1:p.Lys13960=
XM_011511730.1:c.15774A>G XP_011510032.1:p.Lys5258=
XM_011511731.1:c.15633A>G XP_011510033.1:p.Lys5211=
XM_017004819.1:c.41676A>G XP_016860308.1:p.Lys13892=
XM_017004820.1:c.37074A>G XP_016860309.1:p.Lys12358=
XM_017004821.1:c.37071A>G XP_016860310.1:p.Lys12357=
XM_017004822.1:c.34113A>G XP_016860311.1:p.Lys11371=
XM_017004823.1:c.15729A>G XP_016860312.1:p.Lys5243=
XM_024453094.1:c.37224A>G XP_024308862.1:p.Lys12408=
XM_024453095.1:c.37221A>G XP_024308863.1:p.Lys12407=
XM_024453096.1:c.36654A>G XP_024308864.1:p.Lys12218=
XM_024453097.1:c.33996A>G XP_024308865.1:p.Lys11332=
XM_024453098.1:c.33915A>G XP_024308866.1:p.Lys11305=
XM_024453099.1:c.15678A>G XP_024308867.1:p.Lys5226=
XM_024453100.1:c.5532A>G XP_024308868.1:p.Lys1844=