Canonical Allele Identifier: CA761290948
Community Standard Title: NM_001267550.2(TTN):c.43086+7C>G
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178633180G>C , CM000664.2:g.178633180G>C GRCh38
NC_000002.11:g.179497907G>C , CM000664.1:g.179497907G>C GRCh37
NC_000002.10:g.179206152G>C NCBI36
NG_011618.3:g.202623C>G , LRG_391:g.202623C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.43086+7C>G MANE Select NP_001254479.2:n.43086+7C>G
ENST00000589042.5:c.43086+7C>G MANE Select ENSP00000467141.1:n.43086+7C>G
NM_001256850.1:c.38163+7C>G NP_001243779.1:n.38163+7C>G
NM_003319.4:c.15891+7C>G NP_003310.4:n.15891+7C>G
NM_133378.4:c.35382+7C>G NP_596869.4:n.35382+7C>G
NM_133432.3:c.16266+7C>G NP_597676.3:n.16266+7C>G
NM_133437.4:c.16467+7C>G NP_597681.4:n.16467+7C>G
ENST00000342175.10:c.16467+7C>G ENSP00000340554.6:n.16467+7C>G
ENST00000342175.11:c.16467+7C>G ENSP00000340554.6:n.16467+7C>G
ENST00000342992.10:c.35382+7C>G ENSP00000343764.6:n.35382+7C>G
ENST00000342992.11:c.35382+7C>G ENSP00000343764.6:n.35382+7C>G
ENST00000359218.10:c.16266+7C>G ENSP00000352154.5:n.16266+7C>G
ENST00000359218.9:c.16266+7C>G ENSP00000352154.5:n.16266+7C>G
ENST00000460472.6:c.15891+7C>G ENSP00000434586.1:n.15891+7C>G
ENST00000591111.5:c.38163+7C>G ENSP00000465570.1:n.38163+7C>G
ENST00000615779.4:c.38163+7C>G ENSP00000483597.1:n.38163+7C>G
XM_011511729.1:c.42183+7C>G XP_011510031.1:n.42183+7C>G
XM_011511730.1:c.16077+7C>G XP_011510032.1:n.16077+7C>G
XM_011511731.1:c.15936+7C>G XP_011510033.1:n.15936+7C>G
XM_017004819.1:c.41979+7C>G XP_016860308.1:n.41979+7C>G
XM_017004820.1:c.37377+7C>G XP_016860309.1:n.37377+7C>G
XM_017004821.1:c.37374+7C>G XP_016860310.1:n.37374+7C>G
XM_017004822.1:c.34416+7C>G XP_016860311.1:n.34416+7C>G
XM_017004823.1:c.16032+7C>G XP_016860312.1:n.16032+7C>G
XM_024453094.1:c.37527+7C>G XP_024308862.1:n.37527+7C>G
XM_024453095.1:c.37524+7C>G XP_024308863.1:n.37524+7C>G
XM_024453096.1:c.36957+7C>G XP_024308864.1:n.36957+7C>G
XM_024453097.1:c.34299+7C>G XP_024308865.1:n.34299+7C>G
XM_024453098.1:c.34218+7C>G XP_024308866.1:n.34218+7C>G
XM_024453099.1:c.15981+7C>G XP_024308867.1:n.15981+7C>G
XM_024453100.1:c.5835+7C>G XP_024308868.1:n.5835+7C>G