Canonical Allele Identifier: CA284174

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178539470T>C , CM000664.2:g.178539470T>C GRCh38
NC_000002.11:g.179404197T>C , CM000664.1:g.179404197T>C GRCh37
NC_000002.10:g.179112443T>C NCBI36
NG_011618.3:g.296333A>G , LRG_391:g.296333A>G
NG_051363.1:g.21644T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.90891A>G (TTN) ENSP00000343764.6:p.Glu30297=
ENST00000342175.11:c.71976A>G (TTN) ENSP00000340554.6:p.Glu23992=
ENST00000359218.10:c.71775A>G (TTN) ENSP00000352154.5:p.Glu23925=
ENST00000342175.10:c.71976A>G (TTN) ENSP00000340554.6:p.Glu23992=
ENST00000342992.10:c.90891A>G (TTN) ENSP00000343764.6:p.Glu30297=
ENST00000359218.9:c.71775A>G (TTN) ENSP00000352154.5:p.Glu23925=
ENST00000460472.6:c.71400A>G (TTN) ENSP00000434586.1:p.Glu23800=
ENST00000589042.5:c.98595A>G (TTN) MANE Select ENSP00000467141.1:p.Glu32865=
ENST00000591111.5:c.93672A>G (TTN) ENSP00000465570.1:p.Glu31224=
ENST00000615779.4:c.93672A>G (TTN) ENSP00000483597.1:p.Glu31224=
NM_001256850.1:c.93672A>G (TTN) NP_001243779.1:p.Glu31224=
NM_001267550.2:c.98595A>G (TTN) MANE Select NP_001254479.2:p.Glu32865=
NM_003319.4:c.71400A>G (TTN) NP_003310.4:p.Glu23800=
NM_133378.4:c.90891A>G (TTN) NP_596869.4:p.Glu30297=
NM_133432.3:c.71775A>G (TTN) NP_597676.3:p.Glu23925=
NM_133437.4:c.71976A>G (TTN) NP_597681.4:p.Glu23992=
NR_038271.1:n.446+15834T>C (TTN-AS1)
NR_038272.1:n.1420T>C (TTN-AS1)
XM_011511729.1:c.97692A>G (TTN) XP_011510031.1:p.Glu32564=
XM_011511730.1:c.71586A>G (TTN) XP_011510032.1:p.Glu23862=
XM_011511731.1:c.71445A>G (TTN) XP_011510033.1:p.Glu23815=
XM_017004819.1:c.97488A>G (TTN) XP_016860308.1:p.Glu32496=
XM_017004820.1:c.92886A>G (TTN) XP_016860309.1:p.Glu30962=
XM_017004821.1:c.92883A>G (TTN) XP_016860310.1:p.Glu30961=
XM_017004822.1:c.89925A>G (TTN) XP_016860311.1:p.Glu29975=
XM_017004823.1:c.71541A>G (TTN) XP_016860312.1:p.Glu23847=
XM_024453094.1:c.93036A>G (TTN) XP_024308862.1:p.Glu31012=
XM_024453095.1:c.93033A>G (TTN) XP_024308863.1:p.Glu31011=
XM_024453096.1:c.92466A>G (TTN) XP_024308864.1:p.Glu30822=
XM_024453097.1:c.89808A>G (TTN) XP_024308865.1:p.Glu29936=
XM_024453098.1:c.89727A>G (TTN) XP_024308866.1:p.Glu29909=
XM_024453099.1:c.71490A>G (TTN) XP_024308867.1:p.Glu23830=
XM_024453100.1:c.61344A>G (TTN) XP_024308868.1:p.Glu20448=