Canonical Allele Identifier: CA1995594
Community Standard Title: NM_001267550.2(TTN):c.44667G>C (p.Gly14889=)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178624613C>G , CM000664.2:g.178624613C>G GRCh38
NC_000002.11:g.179489340C>G , CM000664.1:g.179489340C>G GRCh37
NC_000002.10:g.179197585C>G NCBI36
NG_011618.3:g.211190G>C , LRG_391:g.211190G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.44667G>C MANE Select NP_001254479.2:p.Gly14889=
ENST00000589042.5:c.44667G>C MANE Select ENSP00000467141.1:p.Gly14889=
NM_001256850.1:c.39744G>C NP_001243779.1:p.Gly13248=
NM_003319.4:c.17472G>C NP_003310.4:p.Gly5824=
NM_133378.4:c.36963G>C NP_596869.4:p.Gly12321=
NM_133432.3:c.17847G>C NP_597676.3:p.Gly5949=
NM_133437.4:c.18048G>C NP_597681.4:p.Gly6016=
ENST00000342175.10:c.18048G>C ENSP00000340554.6:p.Gly6016=
ENST00000342175.11:c.18048G>C ENSP00000340554.6:p.Gly6016=
ENST00000342992.10:c.36963G>C ENSP00000343764.6:p.Gly12321=
ENST00000342992.11:c.36963G>C ENSP00000343764.6:p.Gly12321=
ENST00000359218.10:c.17847G>C ENSP00000352154.5:p.Gly5949=
ENST00000359218.9:c.17847G>C ENSP00000352154.5:p.Gly5949=
ENST00000460472.6:c.17472G>C ENSP00000434586.1:p.Gly5824=
ENST00000591111.5:c.39744G>C ENSP00000465570.1:p.Gly13248=
ENST00000615779.4:c.39744G>C ENSP00000483597.1:p.Gly13248=
XM_011511729.1:c.43764G>C XP_011510031.1:p.Gly14588=
XM_011511730.1:c.17658G>C XP_011510032.1:p.Gly5886=
XM_011511731.1:c.17517G>C XP_011510033.1:p.Gly5839=
XM_017004819.1:c.43560G>C XP_016860308.1:p.Gly14520=
XM_017004820.1:c.38958G>C XP_016860309.1:p.Gly12986=
XM_017004821.1:c.38955G>C XP_016860310.1:p.Gly12985=
XM_017004822.1:c.35997G>C XP_016860311.1:p.Gly11999=
XM_017004823.1:c.17613G>C XP_016860312.1:p.Gly5871=
XM_024453094.1:c.39108G>C XP_024308862.1:p.Gly13036=
XM_024453095.1:c.39105G>C XP_024308863.1:p.Gly13035=
XM_024453096.1:c.38538G>C XP_024308864.1:p.Gly12846=
XM_024453097.1:c.35880G>C XP_024308865.1:p.Gly11960=
XM_024453098.1:c.35799G>C XP_024308866.1:p.Gly11933=
XM_024453099.1:c.17562G>C XP_024308867.1:p.Gly5854=
XM_024453100.1:c.7416G>C XP_024308868.1:p.Gly2472=