Canonical Allele Identifier: CA349436042

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584670A>C , CM000664.2:g.178584670A>C GRCh38
NC_000002.11:g.179449397A>C , CM000664.1:g.179449397A>C GRCh37
NC_000002.10:g.179157643A>C NCBI36
NG_011618.3:g.251133T>G , LRG_391:g.251133T>G
NG_051363.1:g.66844A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57267T>G (TTN) ENSP00000343764.6:p.Phe19089Leu
ENST00000342175.11:c.38352T>G (TTN) ENSP00000340554.6:p.Phe12784Leu
ENST00000359218.10:c.38151T>G (TTN) ENSP00000352154.5:p.Phe12717Leu
ENST00000342175.10:c.38352T>G (TTN) ENSP00000340554.6:p.Phe12784Leu
ENST00000342992.10:c.57267T>G (TTN) ENSP00000343764.6:p.Phe19089Leu
ENST00000359218.9:c.38151T>G (TTN) ENSP00000352154.5:p.Phe12717Leu
ENST00000460472.6:c.37776T>G (TTN) ENSP00000434586.1:p.Phe12592Leu
ENST00000589042.5:c.64971T>G (TTN) MANE Select ENSP00000467141.1:p.Phe21657Leu
ENST00000591111.5:c.60048T>G (TTN) ENSP00000465570.1:p.Phe20016Leu
ENST00000615779.4:c.60048T>G (TTN) ENSP00000483597.1:p.Phe20016Leu
NM_001256850.1:c.60048T>G (TTN) NP_001243779.1:p.Phe20016Leu
NM_001267550.2:c.64971T>G (TTN) MANE Select NP_001254479.2:p.Phe21657Leu
NM_003319.4:c.37776T>G (TTN) NP_003310.4:p.Phe12592Leu
NM_133378.4:c.57267T>G (TTN) NP_596869.4:p.Phe19089Leu
NM_133432.3:c.38151T>G (TTN) NP_597676.3:p.Phe12717Leu
NM_133437.4:c.38352T>G (TTN) NP_597681.4:p.Phe12784Leu
NR_038271.1:n.597-12926A>C (TTN-AS1)
NR_038272.1:n.2865A>C (TTN-AS1)
XM_011511729.1:c.64068T>G (TTN) XP_011510031.1:p.Phe21356Leu
XM_011511730.1:c.37962T>G (TTN) XP_011510032.1:p.Phe12654Leu
XM_011511731.1:c.37821T>G (TTN) XP_011510033.1:p.Phe12607Leu
XM_017004819.1:c.63864T>G (TTN) XP_016860308.1:p.Phe21288Leu
XM_017004820.1:c.59262T>G (TTN) XP_016860309.1:p.Phe19754Leu
XM_017004821.1:c.59259T>G (TTN) XP_016860310.1:p.Phe19753Leu
XM_017004822.1:c.56301T>G (TTN) XP_016860311.1:p.Phe18767Leu
XM_017004823.1:c.37917T>G (TTN) XP_016860312.1:p.Phe12639Leu
XM_024453094.1:c.59412T>G (TTN) XP_024308862.1:p.Phe19804Leu
XM_024453095.1:c.59409T>G (TTN) XP_024308863.1:p.Phe19803Leu
XM_024453096.1:c.58842T>G (TTN) XP_024308864.1:p.Phe19614Leu
XM_024453097.1:c.56184T>G (TTN) XP_024308865.1:p.Phe18728Leu
XM_024453098.1:c.56103T>G (TTN) XP_024308866.1:p.Phe18701Leu
XM_024453099.1:c.37866T>G (TTN) XP_024308867.1:p.Phe12622Leu
XM_024453100.1:c.27720T>G (TTN) XP_024308868.1:p.Phe9240Leu