Canonical Allele Identifier: CA349456912

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544384G>C , CM000664.2:g.178544384G>C GRCh38
NC_000002.11:g.179409111G>C , CM000664.1:g.179409111G>C GRCh37
NC_000002.10:g.179117357G>C NCBI36
NG_011618.3:g.291419C>G , LRG_391:g.291419C>G
NG_051363.1:g.26558G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88141C>G (TTN) ENSP00000343764.6:p.Gln29381Glu
ENST00000342175.11:c.69226C>G (TTN) ENSP00000340554.6:p.Gln23076Glu
ENST00000359218.10:c.69025C>G (TTN) ENSP00000352154.5:p.Gln23009Glu
ENST00000342175.10:c.69226C>G (TTN) ENSP00000340554.6:p.Gln23076Glu
ENST00000342992.10:c.88141C>G (TTN) ENSP00000343764.6:p.Gln29381Glu
ENST00000359218.9:c.69025C>G (TTN) ENSP00000352154.5:p.Gln23009Glu
ENST00000460472.6:c.68650C>G (TTN) ENSP00000434586.1:p.Gln22884Glu
ENST00000589042.5:c.95845C>G (TTN) MANE Select ENSP00000467141.1:p.Gln31949Glu
ENST00000591111.5:c.90922C>G (TTN) ENSP00000465570.1:p.Gln30308Glu
ENST00000615779.4:c.90922C>G (TTN) ENSP00000483597.1:p.Gln30308Glu
NM_001256850.1:c.90922C>G (TTN) NP_001243779.1:p.Gln30308Glu
NM_001267550.2:c.95845C>G (TTN) MANE Select NP_001254479.2:p.Gln31949Glu
NM_003319.4:c.68650C>G (TTN) NP_003310.4:p.Gln22884Glu
NM_133378.4:c.88141C>G (TTN) NP_596869.4:p.Gln29381Glu
NM_133432.3:c.69025C>G (TTN) NP_597676.3:p.Gln23009Glu
NM_133437.4:c.69226C>G (TTN) NP_597681.4:p.Gln23076Glu
NR_038271.1:n.446+20748G>C (TTN-AS1)
NR_038272.1:n.2043+2023G>C (TTN-AS1)
XM_011511729.1:c.94942C>G (TTN) XP_011510031.1:p.Gln31648Glu
XM_011511730.1:c.68836C>G (TTN) XP_011510032.1:p.Gln22946Glu
XM_011511731.1:c.68695C>G (TTN) XP_011510033.1:p.Gln22899Glu
XM_017004819.1:c.94738C>G (TTN) XP_016860308.1:p.Gln31580Glu
XM_017004820.1:c.90136C>G (TTN) XP_016860309.1:p.Gln30046Glu
XM_017004821.1:c.90133C>G (TTN) XP_016860310.1:p.Gln30045Glu
XM_017004822.1:c.87175C>G (TTN) XP_016860311.1:p.Gln29059Glu
XM_017004823.1:c.68791C>G (TTN) XP_016860312.1:p.Gln22931Glu
XM_024453094.1:c.90286C>G (TTN) XP_024308862.1:p.Gln30096Glu
XM_024453095.1:c.90283C>G (TTN) XP_024308863.1:p.Gln30095Glu
XM_024453096.1:c.89716C>G (TTN) XP_024308864.1:p.Gln29906Glu
XM_024453097.1:c.87058C>G (TTN) XP_024308865.1:p.Gln29020Glu
XM_024453098.1:c.86977C>G (TTN) XP_024308866.1:p.Gln28993Glu
XM_024453099.1:c.68740C>G (TTN) XP_024308867.1:p.Gln22914Glu
XM_024453100.1:c.58594C>G (TTN) XP_024308868.1:p.Gln19532Glu