Canonical Allele Identifier: CA349638533
Community Standard Title: NM_001267550.2(TTN):c.44913+1G>T
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178622669C>A , CM000664.2:g.178622669C>A GRCh38
NC_000002.11:g.179487396C>A , CM000664.1:g.179487396C>A GRCh37
NC_000002.10:g.179195641C>A NCBI36
NG_011618.3:g.213134G>T , LRG_391:g.213134G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.44913+1G>T MANE Select NP_001254479.2:n.44913+1G>T
ENST00000589042.5:c.44913+1G>T MANE Select ENSP00000467141.1:n.44913+1G>T
NM_001256850.1:c.39990+1G>T NP_001243779.1:n.39990+1G>T
NM_003319.4:c.17718+1G>T NP_003310.4:n.17718+1G>T
NM_133378.4:c.37209+1G>T NP_596869.4:n.37209+1G>T
NM_133432.3:c.18093+1G>T NP_597676.3:n.18093+1G>T
NM_133437.4:c.18294+1G>T NP_597681.4:n.18294+1G>T
ENST00000342175.10:c.18294+1G>T ENSP00000340554.6:n.18294+1G>T
ENST00000342175.11:c.18294+1G>T ENSP00000340554.6:n.18294+1G>T
ENST00000342992.10:c.37209+1G>T ENSP00000343764.6:n.37209+1G>T
ENST00000342992.11:c.37209+1G>T ENSP00000343764.6:n.37209+1G>T
ENST00000359218.10:c.18093+1G>T ENSP00000352154.5:n.18093+1G>T
ENST00000359218.9:c.18093+1G>T ENSP00000352154.5:n.18093+1G>T
ENST00000460472.6:c.17718+1G>T ENSP00000434586.1:n.17718+1G>T
ENST00000591111.5:c.39990+1G>T ENSP00000465570.1:n.39990+1G>T
ENST00000615779.4:c.39990+1G>T ENSP00000483597.1:n.39990+1G>T
XM_011511729.1:c.44010+1G>T XP_011510031.1:n.44010+1G>T
XM_011511730.1:c.17904+1G>T XP_011510032.1:n.17904+1G>T
XM_011511731.1:c.17763+1G>T XP_011510033.1:n.17763+1G>T
XM_017004819.1:c.43806+1G>T XP_016860308.1:n.43806+1G>T
XM_017004820.1:c.39204+1G>T XP_016860309.1:n.39204+1G>T
XM_017004821.1:c.39201+1G>T XP_016860310.1:n.39201+1G>T
XM_017004822.1:c.36243+1G>T XP_016860311.1:n.36243+1G>T
XM_017004823.1:c.17859+1G>T XP_016860312.1:n.17859+1G>T
XM_024453094.1:c.39354+1G>T XP_024308862.1:n.39354+1G>T
XM_024453095.1:c.39351+1G>T XP_024308863.1:n.39351+1G>T
XM_024453096.1:c.38784+1G>T XP_024308864.1:n.38784+1G>T
XM_024453097.1:c.36126+1G>T XP_024308865.1:n.36126+1G>T
XM_024453098.1:c.36045+1G>T XP_024308866.1:n.36045+1G>T
XM_024453099.1:c.17808+1G>T XP_024308867.1:n.17808+1G>T
XM_024453100.1:c.7662+1G>T XP_024308868.1:n.7662+1G>T