Canonical Allele Identifier: CA349488726

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591984G>A , CM000664.2:g.178591984G>A GRCh38
NC_000002.11:g.179456711G>A , CM000664.1:g.179456711G>A GRCh37
NC_000002.10:g.179164957G>A NCBI36
NG_011618.3:g.243819C>T , LRG_391:g.243819C>T
NG_051363.1:g.74158G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52216C>T (TTN) ENSP00000343764.6:p.Pro17406Ser
ENST00000342175.11:c.33301C>T (TTN) ENSP00000340554.6:p.Pro11101Ser
ENST00000359218.10:c.33100C>T (TTN) ENSP00000352154.5:p.Pro11034Ser
ENST00000342175.10:c.33301C>T (TTN) ENSP00000340554.6:p.Pro11101Ser
ENST00000342992.10:c.52216C>T (TTN) ENSP00000343764.6:p.Pro17406Ser
ENST00000359218.9:c.33100C>T (TTN) ENSP00000352154.5:p.Pro11034Ser
ENST00000460472.6:c.32725C>T (TTN) ENSP00000434586.1:p.Pro10909Ser
ENST00000589042.5:c.59920C>T (TTN) MANE Select ENSP00000467141.1:p.Pro19974Ser
ENST00000591111.5:c.54997C>T (TTN) ENSP00000465570.1:p.Pro18333Ser
ENST00000615779.4:c.54997C>T (TTN) ENSP00000483597.1:p.Pro18333Ser
NM_001256850.1:c.54997C>T (TTN) NP_001243779.1:p.Pro18333Ser
NM_001267550.2:c.59920C>T (TTN) MANE Select NP_001254479.2:p.Pro19974Ser
NM_003319.4:c.32725C>T (TTN) NP_003310.4:p.Pro10909Ser
NM_133378.4:c.52216C>T (TTN) NP_596869.4:p.Pro17406Ser
NM_133432.3:c.33100C>T (TTN) NP_597676.3:p.Pro11034Ser
NM_133437.4:c.33301C>T (TTN) NP_597681.4:p.Pro11101Ser
NR_038271.1:n.597-5612G>A (TTN-AS1)
NR_038272.1:n.3364+670G>A (TTN-AS1)
XM_011511729.1:c.59017C>T (TTN) XP_011510031.1:p.Pro19673Ser
XM_011511730.1:c.32911C>T (TTN) XP_011510032.1:p.Pro10971Ser
XM_011511731.1:c.32770C>T (TTN) XP_011510033.1:p.Pro10924Ser
XM_017004819.1:c.58813C>T (TTN) XP_016860308.1:p.Pro19605Ser
XM_017004820.1:c.54211C>T (TTN) XP_016860309.1:p.Pro18071Ser
XM_017004821.1:c.54208C>T (TTN) XP_016860310.1:p.Pro18070Ser
XM_017004822.1:c.51250C>T (TTN) XP_016860311.1:p.Pro17084Ser
XM_017004823.1:c.32866C>T (TTN) XP_016860312.1:p.Pro10956Ser
XM_024453094.1:c.54361C>T (TTN) XP_024308862.1:p.Pro18121Ser
XM_024453095.1:c.54358C>T (TTN) XP_024308863.1:p.Pro18120Ser
XM_024453096.1:c.53791C>T (TTN) XP_024308864.1:p.Pro17931Ser
XM_024453097.1:c.51133C>T (TTN) XP_024308865.1:p.Pro17045Ser
XM_024453098.1:c.51052C>T (TTN) XP_024308866.1:p.Pro17018Ser
XM_024453099.1:c.32815C>T (TTN) XP_024308867.1:p.Pro10939Ser
XM_024453100.1:c.22669C>T (TTN) XP_024308868.1:p.Pro7557Ser