Canonical Allele Identifier: CA349430524
Community Standard Title: NM_001267550.2(TTN):c.99289+1G>C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178538539C>G , CM000664.2:g.178538539C>G GRCh38
NC_000002.11:g.179403266C>G , CM000664.1:g.179403266C>G GRCh37
NC_000002.10:g.179111512C>G NCBI36
NG_011618.3:g.297264G>C , LRG_391:g.297264G>C
NG_051363.1:g.20713C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.99289+1G>C (TTN) MANE Select NP_001254479.2:n.99289+1G>C
ENST00000589042.5:c.99289+1G>C (TTN) MANE Select ENSP00000467141.1:n.99289+1G>C
NM_001256850.1:c.94366+1G>C (TTN) NP_001243779.1:n.94366+1G>C
NM_003319.4:c.72094+1G>C (TTN) NP_003310.4:n.72094+1G>C
NM_133378.4:c.91585+1G>C (TTN) NP_596869.4:n.91585+1G>C
NM_133432.3:c.72469+1G>C (TTN) NP_597676.3:n.72469+1G>C
NM_133437.4:c.72670+1G>C (TTN) NP_597681.4:n.72670+1G>C
NR_038271.1:n.446+14903C>G (TTN-AS1)
NR_038272.1:n.648-159C>G (TTN-AS1)
ENST00000342175.10:c.72670+1G>C (TTN) ENSP00000340554.6:n.72670+1G>C
ENST00000342175.11:c.72670+1G>C (TTN) ENSP00000340554.6:n.72670+1G>C
ENST00000342992.10:c.91585+1G>C (TTN) ENSP00000343764.6:n.91585+1G>C
ENST00000342992.11:c.91585+1G>C (TTN) ENSP00000343764.6:n.91585+1G>C
ENST00000359218.10:c.72469+1G>C (TTN) ENSP00000352154.5:n.72469+1G>C
ENST00000359218.9:c.72469+1G>C (TTN) ENSP00000352154.5:n.72469+1G>C
ENST00000460472.6:c.72094+1G>C (TTN) ENSP00000434586.1:n.72094+1G>C
ENST00000591111.5:c.94366+1G>C (TTN) ENSP00000465570.1:n.94366+1G>C
ENST00000615779.4:c.94366+1G>C (TTN) ENSP00000483597.1:n.94366+1G>C
XM_011511729.1:c.98386+1G>C (TTN) XP_011510031.1:n.98386+1G>C
XM_011511730.1:c.72280+1G>C (TTN) XP_011510032.1:n.72280+1G>C
XM_011511731.1:c.72139+1G>C (TTN) XP_011510033.1:n.72139+1G>C
XM_017004819.1:c.98182+1G>C (TTN) XP_016860308.1:n.98182+1G>C
XM_017004820.1:c.93580+1G>C (TTN) XP_016860309.1:n.93580+1G>C
XM_017004821.1:c.93577+1G>C (TTN) XP_016860310.1:n.93577+1G>C
XM_017004822.1:c.90619+1G>C (TTN) XP_016860311.1:n.90619+1G>C
XM_017004823.1:c.72235+1G>C (TTN) XP_016860312.1:n.72235+1G>C
XM_024453094.1:c.93730+1G>C (TTN) XP_024308862.1:n.93730+1G>C
XM_024453095.1:c.93727+1G>C (TTN) XP_024308863.1:n.93727+1G>C
XM_024453096.1:c.93160+1G>C (TTN) XP_024308864.1:n.93160+1G>C
XM_024453097.1:c.90502+1G>C (TTN) XP_024308865.1:n.90502+1G>C
XM_024453098.1:c.90421+1G>C (TTN) XP_024308866.1:n.90421+1G>C
XM_024453099.1:c.72184+1G>C (TTN) XP_024308867.1:n.72184+1G>C
XM_024453100.1:c.62038+1G>C (TTN) XP_024308868.1:n.62038+1G>C