Canonical Allele Identifier: CA1995285
Community Standard Title: NM_001267550.2(TTN):c.46221C>T (p.Asp15407=)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178620300G>A , CM000664.2:g.178620300G>A GRCh38
NC_000002.11:g.179485027G>A , CM000664.1:g.179485027G>A GRCh37
NC_000002.10:g.179193272G>A NCBI36
NG_011618.3:g.215503C>T , LRG_391:g.215503C>T
NG_051363.1:g.102474G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.46221C>T MANE Select NP_001254479.2:p.Asp15407=
ENST00000589042.5:c.46221C>T MANE Select ENSP00000467141.1:p.Asp15407=
NM_001256850.1:c.41298C>T NP_001243779.1:p.Asp13766=
NM_003319.4:c.19026C>T NP_003310.4:p.Asp6342=
NM_133378.4:c.38517C>T NP_596869.4:p.Asp12839=
NM_133432.3:c.19401C>T NP_597676.3:p.Asp6467=
NM_133437.4:c.19602C>T NP_597681.4:p.Asp6534=
ENST00000342175.10:c.19602C>T ENSP00000340554.6:p.Asp6534=
ENST00000342175.11:c.19602C>T ENSP00000340554.6:p.Asp6534=
ENST00000342992.10:c.38517C>T ENSP00000343764.6:p.Asp12839=
ENST00000342992.11:c.38517C>T ENSP00000343764.6:p.Asp12839=
ENST00000359218.10:c.19401C>T ENSP00000352154.5:p.Asp6467=
ENST00000359218.9:c.19401C>T ENSP00000352154.5:p.Asp6467=
ENST00000460472.6:c.19026C>T ENSP00000434586.1:p.Asp6342=
ENST00000591111.5:c.41298C>T ENSP00000465570.1:p.Asp13766=
ENST00000615779.4:c.41298C>T ENSP00000483597.1:p.Asp13766=
XM_011511729.1:c.45318C>T XP_011510031.1:p.Asp15106=
XM_011511730.1:c.19212C>T XP_011510032.1:p.Asp6404=
XM_011511731.1:c.19071C>T XP_011510033.1:p.Asp6357=
XM_017004819.1:c.45114C>T XP_016860308.1:p.Asp15038=
XM_017004820.1:c.40512C>T XP_016860309.1:p.Asp13504=
XM_017004821.1:c.40509C>T XP_016860310.1:p.Asp13503=
XM_017004822.1:c.37551C>T XP_016860311.1:p.Asp12517=
XM_017004823.1:c.19167C>T XP_016860312.1:p.Asp6389=
XM_024453094.1:c.40662C>T XP_024308862.1:p.Asp13554=
XM_024453095.1:c.40659C>T XP_024308863.1:p.Asp13553=
XM_024453096.1:c.40092C>T XP_024308864.1:p.Asp13364=
XM_024453097.1:c.37434C>T XP_024308865.1:p.Asp12478=
XM_024453098.1:c.37353C>T XP_024308866.1:p.Asp12451=
XM_024453099.1:c.19116C>T XP_024308867.1:p.Asp6372=
XM_024453100.1:c.8970C>T XP_024308868.1:p.Asp2990=