Canonical Allele Identifier: CA1985409

Linked Data

ClinVar Variation Id: 2939853
ClinVar RCV Id: RCV003795019
dbSNP Id: rs753077114

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532084G>A , CM000664.2:g.178532084G>A GRCh38
NC_000002.11:g.179396811G>A , CM000664.1:g.179396811G>A GRCh37
NC_000002.10:g.179105057G>A NCBI36
NG_011618.3:g.303719C>T , LRG_391:g.303719C>T
NG_051363.1:g.14258G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96827C>T (TTN) ENSP00000343764.6:p.Ser32276Phe
ENST00000342175.11:c.77912C>T (TTN) ENSP00000340554.6:p.Ser25971Phe
ENST00000359218.10:c.77711C>T (TTN) ENSP00000352154.5:p.Ser25904Phe
ENST00000342175.10:c.77912C>T (TTN) ENSP00000340554.6:p.Ser25971Phe
ENST00000342992.10:c.96827C>T (TTN) ENSP00000343764.6:p.Ser32276Phe
ENST00000359218.9:c.77711C>T (TTN) ENSP00000352154.5:p.Ser25904Phe
ENST00000460472.6:c.77336C>T (TTN) ENSP00000434586.1:p.Ser25779Phe
ENST00000589042.5:c.104531C>T (TTN) MANE Select ENSP00000467141.1:p.Ser34844Phe
ENST00000591111.5:c.99608C>T (TTN) ENSP00000465570.1:p.Ser33203Phe
ENST00000615779.4:c.99608C>T (TTN) ENSP00000483597.1:p.Ser33203Phe
NM_001256850.1:c.99608C>T (TTN) NP_001243779.1:p.Ser33203Phe
NM_001267550.2:c.104531C>T (TTN) MANE Select NP_001254479.2:p.Ser34844Phe
NM_003319.4:c.77336C>T (TTN) NP_003310.4:p.Ser25779Phe
NM_133378.4:c.96827C>T (TTN) NP_596869.4:p.Ser32276Phe
NM_133432.3:c.77711C>T (TTN) NP_597676.3:p.Ser25904Phe
NM_133437.4:c.77912C>T (TTN) NP_597681.4:p.Ser25971Phe
NR_038271.1:n.446+8448G>A (TTN-AS1)
NR_038272.1:n.220-3648G>A (TTN-AS1)
XM_011511729.1:c.103628C>T (TTN) XP_011510031.1:p.Ser34543Phe
XM_011511730.1:c.77522C>T (TTN) XP_011510032.1:p.Ser25841Phe
XM_011511731.1:c.77381C>T (TTN) XP_011510033.1:p.Ser25794Phe
XM_017004819.1:c.103424C>T (TTN) XP_016860308.1:p.Ser34475Phe
XM_017004820.1:c.98822C>T (TTN) XP_016860309.1:p.Ser32941Phe
XM_017004821.1:c.98819C>T (TTN) XP_016860310.1:p.Ser32940Phe
XM_017004822.1:c.95861C>T (TTN) XP_016860311.1:p.Ser31954Phe
XM_017004823.1:c.77477C>T (TTN) XP_016860312.1:p.Ser25826Phe
XM_024453094.1:c.98972C>T (TTN) XP_024308862.1:p.Ser32991Phe
XM_024453095.1:c.98969C>T (TTN) XP_024308863.1:p.Ser32990Phe
XM_024453096.1:c.98402C>T (TTN) XP_024308864.1:p.Ser32801Phe
XM_024453097.1:c.95744C>T (TTN) XP_024308865.1:p.Ser31915Phe
XM_024453098.1:c.95663C>T (TTN) XP_024308866.1:p.Ser31888Phe
XM_024453099.1:c.77426C>T (TTN) XP_024308867.1:p.Ser25809Phe
XM_024453100.1:c.67280C>T (TTN) XP_024308868.1:p.Ser22427Phe