Canonical Allele Identifier: CA349656200
Community Standard Title: NM_001267550.2(TTN):c.42024+1G>C
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178635164C>G , CM000664.2:g.178635164C>G GRCh38
NC_000002.11:g.179499891C>G , CM000664.1:g.179499891C>G GRCh37
NC_000002.10:g.179208136C>G NCBI36
NG_011618.3:g.200639G>C , LRG_391:g.200639G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.42024+1G>C MANE Select NP_001254479.2:n.42024+1G>C
ENST00000589042.5:c.42024+1G>C MANE Select ENSP00000467141.1:n.42024+1G>C
NM_001256850.1:c.37101+1G>C NP_001243779.1:n.37101+1G>C
NM_003319.4:c.14829+1G>C NP_003310.4:n.14829+1G>C
NM_133378.4:c.34320+1G>C NP_596869.4:n.34320+1G>C
NM_133432.3:c.15204+1G>C NP_597676.3:n.15204+1G>C
NM_133437.4:c.15405+1G>C NP_597681.4:n.15405+1G>C
ENST00000342175.10:c.15405+1G>C ENSP00000340554.6:n.15405+1G>C
ENST00000342175.11:c.15405+1G>C ENSP00000340554.6:n.15405+1G>C
ENST00000342992.10:c.34320+1G>C ENSP00000343764.6:n.34320+1G>C
ENST00000342992.11:c.34320+1G>C ENSP00000343764.6:n.34320+1G>C
ENST00000359218.10:c.15204+1G>C ENSP00000352154.5:n.15204+1G>C
ENST00000359218.9:c.15204+1G>C ENSP00000352154.5:n.15204+1G>C
ENST00000460472.6:c.14829+1G>C ENSP00000434586.1:n.14829+1G>C
ENST00000591111.5:c.37101+1G>C ENSP00000465570.1:n.37101+1G>C
ENST00000615779.4:c.37101+1G>C ENSP00000483597.1:n.37101+1G>C
XM_011511729.1:c.41121+1G>C XP_011510031.1:n.41121+1G>C
XM_011511730.1:c.15015+1G>C XP_011510032.1:n.15015+1G>C
XM_011511731.1:c.14874+1G>C XP_011510033.1:n.14874+1G>C
XM_017004819.1:c.40917+1G>C XP_016860308.1:n.40917+1G>C
XM_017004820.1:c.36315+1G>C XP_016860309.1:n.36315+1G>C
XM_017004821.1:c.36312+1G>C XP_016860310.1:n.36312+1G>C
XM_017004822.1:c.33354+1G>C XP_016860311.1:n.33354+1G>C
XM_017004823.1:c.14970+1G>C XP_016860312.1:n.14970+1G>C
XM_024453094.1:c.36465+1G>C XP_024308862.1:n.36465+1G>C
XM_024453095.1:c.36462+1G>C XP_024308863.1:n.36462+1G>C
XM_024453096.1:c.35895+1G>C XP_024308864.1:n.35895+1G>C
XM_024453097.1:c.33237+1G>C XP_024308865.1:n.33237+1G>C
XM_024453098.1:c.33156+1G>C XP_024308866.1:n.33156+1G>C
XM_024453099.1:c.14919+1G>C XP_024308867.1:n.14919+1G>C
XM_024453100.1:c.4773+1G>C XP_024308868.1:n.4773+1G>C