Canonical Allele Identifier: CA309210
Community Standard Title: NM_001267550.2(TTN):c.43747+1G>T
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178632146C>A , CM000664.2:g.178632146C>A GRCh38
NC_000002.11:g.179496873C>A , CM000664.1:g.179496873C>A GRCh37
NC_000002.10:g.179205118C>A NCBI36
NG_011618.3:g.203657G>T , LRG_391:g.203657G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.43747+1G>T MANE Select NP_001254479.2:n.43747+1G>T
ENST00000589042.5:c.43747+1G>T MANE Select ENSP00000467141.1:n.43747+1G>T
NM_001256850.1:c.38824+1G>T NP_001243779.1:n.38824+1G>T
NM_003319.4:c.16552+1G>T NP_003310.4:n.16552+1G>T
NM_133378.4:c.36043+1G>T NP_596869.4:n.36043+1G>T
NM_133432.3:c.16927+1G>T NP_597676.3:n.16927+1G>T
NM_133437.4:c.17128+1G>T NP_597681.4:n.17128+1G>T
ENST00000342175.10:c.17128+1G>T ENSP00000340554.6:n.17128+1G>T
ENST00000342175.11:c.17128+1G>T ENSP00000340554.6:n.17128+1G>T
ENST00000342992.10:c.36043+1G>T ENSP00000343764.6:n.36043+1G>T
ENST00000342992.11:c.36043+1G>T ENSP00000343764.6:n.36043+1G>T
ENST00000359218.10:c.16927+1G>T ENSP00000352154.5:n.16927+1G>T
ENST00000359218.9:c.16927+1G>T ENSP00000352154.5:n.16927+1G>T
ENST00000460472.6:c.16552+1G>T ENSP00000434586.1:n.16552+1G>T
ENST00000591111.5:c.38824+1G>T ENSP00000465570.1:n.38824+1G>T
ENST00000615779.4:c.38824+1G>T ENSP00000483597.1:n.38824+1G>T
XM_011511729.1:c.42844+1G>T XP_011510031.1:n.42844+1G>T
XM_011511730.1:c.16738+1G>T XP_011510032.1:n.16738+1G>T
XM_011511731.1:c.16597+1G>T XP_011510033.1:n.16597+1G>T
XM_017004819.1:c.42640+1G>T XP_016860308.1:n.42640+1G>T
XM_017004820.1:c.38038+1G>T XP_016860309.1:n.38038+1G>T
XM_017004821.1:c.38035+1G>T XP_016860310.1:n.38035+1G>T
XM_017004822.1:c.35077+1G>T XP_016860311.1:n.35077+1G>T
XM_017004823.1:c.16693+1G>T XP_016860312.1:n.16693+1G>T
XM_024453094.1:c.38188+1G>T XP_024308862.1:n.38188+1G>T
XM_024453095.1:c.38185+1G>T XP_024308863.1:n.38185+1G>T
XM_024453096.1:c.37618+1G>T XP_024308864.1:n.37618+1G>T
XM_024453097.1:c.34960+1G>T XP_024308865.1:n.34960+1G>T
XM_024453098.1:c.34879+1G>T XP_024308866.1:n.34879+1G>T
XM_024453099.1:c.16642+1G>T XP_024308867.1:n.16642+1G>T
XM_024453100.1:c.6496+1G>T XP_024308868.1:n.6496+1G>T