Canonical Allele Identifier: CA349434911

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178540077C>T , CM000664.2:g.178540077C>T GRCh38
NC_000002.11:g.179404804C>T , CM000664.1:g.179404804C>T GRCh37
NC_000002.10:g.179113050C>T NCBI36
NG_011618.3:g.295726G>A , LRG_391:g.295726G>A
NG_051363.1:g.22251C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.90385G>A (TTN) ENSP00000343764.6:p.Glu30129Lys
ENST00000342175.11:c.71470G>A (TTN) ENSP00000340554.6:p.Glu23824Lys
ENST00000359218.10:c.71269G>A (TTN) ENSP00000352154.5:p.Glu23757Lys
ENST00000342175.10:c.71470G>A (TTN) ENSP00000340554.6:p.Glu23824Lys
ENST00000342992.10:c.90385G>A (TTN) ENSP00000343764.6:p.Glu30129Lys
ENST00000359218.9:c.71269G>A (TTN) ENSP00000352154.5:p.Glu23757Lys
ENST00000460472.6:c.70894G>A (TTN) ENSP00000434586.1:p.Glu23632Lys
ENST00000589042.5:c.98089G>A (TTN) MANE Select ENSP00000467141.1:p.Glu32697Lys
ENST00000591111.5:c.93166G>A (TTN) ENSP00000465570.1:p.Glu31056Lys
ENST00000615779.4:c.93166G>A (TTN) ENSP00000483597.1:p.Glu31056Lys
NM_001256850.1:c.93166G>A (TTN) NP_001243779.1:p.Glu31056Lys
NM_001267550.2:c.98089G>A (TTN) MANE Select NP_001254479.2:p.Glu32697Lys
NM_003319.4:c.70894G>A (TTN) NP_003310.4:p.Glu23632Lys
NM_133378.4:c.90385G>A (TTN) NP_596869.4:p.Glu30129Lys
NM_133432.3:c.71269G>A (TTN) NP_597676.3:p.Glu23757Lys
NM_133437.4:c.71470G>A (TTN) NP_597681.4:p.Glu23824Lys
NR_038271.1:n.446+16441C>T (TTN-AS1)
NR_038272.1:n.1841-30C>T (TTN-AS1)
XM_011511729.1:c.97186G>A (TTN) XP_011510031.1:p.Glu32396Lys
XM_011511730.1:c.71080G>A (TTN) XP_011510032.1:p.Glu23694Lys
XM_011511731.1:c.70939G>A (TTN) XP_011510033.1:p.Glu23647Lys
XM_017004819.1:c.96982G>A (TTN) XP_016860308.1:p.Glu32328Lys
XM_017004820.1:c.92380G>A (TTN) XP_016860309.1:p.Glu30794Lys
XM_017004821.1:c.92377G>A (TTN) XP_016860310.1:p.Glu30793Lys
XM_017004822.1:c.89419G>A (TTN) XP_016860311.1:p.Glu29807Lys
XM_017004823.1:c.71035G>A (TTN) XP_016860312.1:p.Glu23679Lys
XM_024453094.1:c.92530G>A (TTN) XP_024308862.1:p.Glu30844Lys
XM_024453095.1:c.92527G>A (TTN) XP_024308863.1:p.Glu30843Lys
XM_024453096.1:c.91960G>A (TTN) XP_024308864.1:p.Glu30654Lys
XM_024453097.1:c.89302G>A (TTN) XP_024308865.1:p.Glu29768Lys
XM_024453098.1:c.89221G>A (TTN) XP_024308866.1:p.Glu29741Lys
XM_024453099.1:c.70984G>A (TTN) XP_024308867.1:p.Glu23662Lys
XM_024453100.1:c.60838G>A (TTN) XP_024308868.1:p.Glu20280Lys