Canonical Allele Identifier: CA349648263

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178573969C>T , CM000664.2:g.178573969C>T GRCh38
NC_000002.11:g.179438696C>T , CM000664.1:g.179438696C>T GRCh37
NC_000002.10:g.179146942C>T NCBI36
NG_011618.3:g.261834G>A , LRG_391:g.261834G>A
NG_051363.1:g.56143C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.64459G>A (TTN) ENSP00000343764.6:p.Gly21487Ser
ENST00000342175.11:c.45544G>A (TTN) ENSP00000340554.6:p.Gly15182Ser
ENST00000359218.10:c.45343G>A (TTN) ENSP00000352154.5:p.Gly15115Ser
ENST00000342175.10:c.45544G>A (TTN) ENSP00000340554.6:p.Gly15182Ser
ENST00000342992.10:c.64459G>A (TTN) ENSP00000343764.6:p.Gly21487Ser
ENST00000359218.9:c.45343G>A (TTN) ENSP00000352154.5:p.Gly15115Ser
ENST00000460472.6:c.44968G>A (TTN) ENSP00000434586.1:p.Gly14990Ser
ENST00000589042.5:c.72163G>A (TTN) MANE Select ENSP00000467141.1:p.Gly24055Ser
ENST00000591111.5:c.67240G>A (TTN) ENSP00000465570.1:p.Gly22414Ser
ENST00000615779.4:c.67240G>A (TTN) ENSP00000483597.1:p.Gly22414Ser
NM_001256850.1:c.67240G>A (TTN) NP_001243779.1:p.Gly22414Ser
NM_001267550.2:c.72163G>A (TTN) MANE Select NP_001254479.2:p.Gly24055Ser
NM_003319.4:c.44968G>A (TTN) NP_003310.4:p.Gly14990Ser
NM_133378.4:c.64459G>A (TTN) NP_596869.4:p.Gly21487Ser
NM_133432.3:c.45343G>A (TTN) NP_597676.3:p.Gly15115Ser
NM_133437.4:c.45544G>A (TTN) NP_597681.4:p.Gly15182Ser
NR_038271.1:n.596+2520C>T (TTN-AS1)
NR_038272.1:n.2044-8603C>T (TTN-AS1)
XM_011511729.1:c.71260G>A (TTN) XP_011510031.1:p.Gly23754Ser
XM_011511730.1:c.45154G>A (TTN) XP_011510032.1:p.Gly15052Ser
XM_011511731.1:c.45013G>A (TTN) XP_011510033.1:p.Gly15005Ser
XM_017004819.1:c.71056G>A (TTN) XP_016860308.1:p.Gly23686Ser
XM_017004820.1:c.66454G>A (TTN) XP_016860309.1:p.Gly22152Ser
XM_017004821.1:c.66451G>A (TTN) XP_016860310.1:p.Gly22151Ser
XM_017004822.1:c.63493G>A (TTN) XP_016860311.1:p.Gly21165Ser
XM_017004823.1:c.45109G>A (TTN) XP_016860312.1:p.Gly15037Ser
XM_024453094.1:c.66604G>A (TTN) XP_024308862.1:p.Gly22202Ser
XM_024453095.1:c.66601G>A (TTN) XP_024308863.1:p.Gly22201Ser
XM_024453096.1:c.66034G>A (TTN) XP_024308864.1:p.Gly22012Ser
XM_024453097.1:c.63376G>A (TTN) XP_024308865.1:p.Gly21126Ser
XM_024453098.1:c.63295G>A (TTN) XP_024308866.1:p.Gly21099Ser
XM_024453099.1:c.45058G>A (TTN) XP_024308867.1:p.Gly15020Ser
XM_024453100.1:c.34912G>A (TTN) XP_024308868.1:p.Gly11638Ser