Canonical Allele Identifier: CA349398234

Linked Data

dbSNP Id: rs1686700240

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527056C>A , CM000664.2:g.178527056C>A GRCh38
NC_000002.11:g.179391783C>A , CM000664.1:g.179391783C>A GRCh37
NC_000002.10:g.179100029C>A NCBI36
NG_011618.3:g.308747G>T , LRG_391:g.308747G>T
NG_051363.1:g.9230C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.100228G>T (TTN) ENSP00000343764.6:p.Gly33410Ter
ENST00000342175.11:c.81313G>T (TTN) ENSP00000340554.6:p.Gly27105Ter
ENST00000359218.10:c.81112G>T (TTN) ENSP00000352154.5:p.Gly27038Ter
ENST00000342175.10:c.81313G>T (TTN) ENSP00000340554.6:p.Gly27105Ter
ENST00000342992.10:c.100228G>T (TTN) ENSP00000343764.6:p.Gly33410Ter
ENST00000359218.9:c.81112G>T (TTN) ENSP00000352154.5:p.Gly27038Ter
ENST00000460472.6:c.80737G>T (TTN) ENSP00000434586.1:p.Gly26913Ter
ENST00000589042.5:c.107932G>T (TTN) MANE Select ENSP00000467141.1:p.Gly35978Ter
ENST00000591111.5:c.103009G>T (TTN) ENSP00000465570.1:p.Gly34337Ter
ENST00000615779.4:c.103009G>T (TTN) ENSP00000483597.1:p.Gly34337Ter
NM_001256850.1:c.103009G>T (TTN) NP_001243779.1:p.Gly34337Ter
NM_001267550.2:c.107932G>T (TTN) MANE Select NP_001254479.2:p.Gly35978Ter
NM_003319.4:c.80737G>T (TTN) NP_003310.4:p.Gly26913Ter
NM_133378.4:c.100228G>T (TTN) NP_596869.4:p.Gly33410Ter
NM_133432.3:c.81112G>T (TTN) NP_597676.3:p.Gly27038Ter
NM_133437.4:c.81313G>T (TTN) NP_597681.4:p.Gly27105Ter
NR_038271.1:n.446+3420C>A (TTN-AS1)
NR_038272.1:n.219+3420C>A (TTN-AS1)
XM_011511729.1:c.107029G>T (TTN) XP_011510031.1:p.Gly35677Ter
XM_011511730.1:c.80923G>T (TTN) XP_011510032.1:p.Gly26975Ter
XM_011511731.1:c.80782G>T (TTN) XP_011510033.1:p.Gly26928Ter
XM_017004819.1:c.106825G>T (TTN) XP_016860308.1:p.Gly35609Ter
XM_017004820.1:c.102223G>T (TTN) XP_016860309.1:p.Gly34075Ter
XM_017004821.1:c.102220G>T (TTN) XP_016860310.1:p.Gly34074Ter
XM_017004822.1:c.99262G>T (TTN) XP_016860311.1:p.Gly33088Ter
XM_017004823.1:c.80878G>T (TTN) XP_016860312.1:p.Gly26960Ter
XM_024453094.1:c.102373G>T (TTN) XP_024308862.1:p.Gly34125Ter
XM_024453095.1:c.102370G>T (TTN) XP_024308863.1:p.Gly34124Ter
XM_024453096.1:c.101803G>T (TTN) XP_024308864.1:p.Gly33935Ter
XM_024453097.1:c.99145G>T (TTN) XP_024308865.1:p.Gly33049Ter
XM_024453098.1:c.99064G>T (TTN) XP_024308866.1:p.Gly33022Ter
XM_024453099.1:c.80827G>T (TTN) XP_024308867.1:p.Gly26943Ter
XM_024453100.1:c.70681G>T (TTN) XP_024308868.1:p.Gly23561Ter