Canonical Allele Identifier: CA349400104

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527569C>A , CM000664.2:g.178527569C>A GRCh38
NC_000002.11:g.179392296C>A , CM000664.1:g.179392296C>A GRCh37
NC_000002.10:g.179100542C>A NCBI36
NG_011618.3:g.308234G>T , LRG_391:g.308234G>T
NG_051363.1:g.9743C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.99853G>T (TTN) ENSP00000343764.6:p.Ala33285Ser
ENST00000342175.11:c.80938G>T (TTN) ENSP00000340554.6:p.Ala26980Ser
ENST00000359218.10:c.80737G>T (TTN) ENSP00000352154.5:p.Ala26913Ser
ENST00000342175.10:c.80938G>T (TTN) ENSP00000340554.6:p.Ala26980Ser
ENST00000342992.10:c.99853G>T (TTN) ENSP00000343764.6:p.Ala33285Ser
ENST00000359218.9:c.80737G>T (TTN) ENSP00000352154.5:p.Ala26913Ser
ENST00000460472.6:c.80362G>T (TTN) ENSP00000434586.1:p.Ala26788Ser
ENST00000589042.5:c.107557G>T (TTN) MANE Select ENSP00000467141.1:p.Ala35853Ser
ENST00000591111.5:c.102634G>T (TTN) ENSP00000465570.1:p.Ala34212Ser
ENST00000615779.4:c.102634G>T (TTN) ENSP00000483597.1:p.Ala34212Ser
NM_001256850.1:c.102634G>T (TTN) NP_001243779.1:p.Ala34212Ser
NM_001267550.2:c.107557G>T (TTN) MANE Select NP_001254479.2:p.Ala35853Ser
NM_003319.4:c.80362G>T (TTN) NP_003310.4:p.Ala26788Ser
NM_133378.4:c.99853G>T (TTN) NP_596869.4:p.Ala33285Ser
NM_133432.3:c.80737G>T (TTN) NP_597676.3:p.Ala26913Ser
NM_133437.4:c.80938G>T (TTN) NP_597681.4:p.Ala26980Ser
NR_038271.1:n.446+3933C>A (TTN-AS1)
NR_038272.1:n.219+3933C>A (TTN-AS1)
XM_011511729.1:c.106654G>T (TTN) XP_011510031.1:p.Ala35552Ser
XM_011511730.1:c.80548G>T (TTN) XP_011510032.1:p.Ala26850Ser
XM_011511731.1:c.80407G>T (TTN) XP_011510033.1:p.Ala26803Ser
XM_017004819.1:c.106450G>T (TTN) XP_016860308.1:p.Ala35484Ser
XM_017004820.1:c.101848G>T (TTN) XP_016860309.1:p.Ala33950Ser
XM_017004821.1:c.101845G>T (TTN) XP_016860310.1:p.Ala33949Ser
XM_017004822.1:c.98887G>T (TTN) XP_016860311.1:p.Ala32963Ser
XM_017004823.1:c.80503G>T (TTN) XP_016860312.1:p.Ala26835Ser
XM_024453094.1:c.101998G>T (TTN) XP_024308862.1:p.Ala34000Ser
XM_024453095.1:c.101995G>T (TTN) XP_024308863.1:p.Ala33999Ser
XM_024453096.1:c.101428G>T (TTN) XP_024308864.1:p.Ala33810Ser
XM_024453097.1:c.98770G>T (TTN) XP_024308865.1:p.Ala32924Ser
XM_024453098.1:c.98689G>T (TTN) XP_024308866.1:p.Ala32897Ser
XM_024453099.1:c.80452G>T (TTN) XP_024308867.1:p.Ala26818Ser
XM_024453100.1:c.70306G>T (TTN) XP_024308868.1:p.Ala23436Ser