Canonical Allele Identifier: CA349435954

Linked Data

dbSNP Id: rs2048514798

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584569C>T , CM000664.2:g.178584569C>T GRCh38
NC_000002.11:g.179449296C>T , CM000664.1:g.179449296C>T GRCh37
NC_000002.10:g.179157542C>T NCBI36
NG_011618.3:g.251234G>A , LRG_391:g.251234G>A
NG_051363.1:g.66743C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57278G>A (TTN) ENSP00000343764.6:p.Ser19093Asn
ENST00000342175.11:c.38363G>A (TTN) ENSP00000340554.6:p.Ser12788Asn
ENST00000359218.10:c.38162G>A (TTN) ENSP00000352154.5:p.Ser12721Asn
ENST00000342175.10:c.38363G>A (TTN) ENSP00000340554.6:p.Ser12788Asn
ENST00000342992.10:c.57278G>A (TTN) ENSP00000343764.6:p.Ser19093Asn
ENST00000359218.9:c.38162G>A (TTN) ENSP00000352154.5:p.Ser12721Asn
ENST00000460472.6:c.37787G>A (TTN) ENSP00000434586.1:p.Ser12596Asn
ENST00000589042.5:c.64982G>A (TTN) MANE Select ENSP00000467141.1:p.Ser21661Asn
ENST00000591111.5:c.60059G>A (TTN) ENSP00000465570.1:p.Ser20020Asn
ENST00000615779.4:c.60059G>A (TTN) ENSP00000483597.1:p.Ser20020Asn
NM_001256850.1:c.60059G>A (TTN) NP_001243779.1:p.Ser20020Asn
NM_001267550.2:c.64982G>A (TTN) MANE Select NP_001254479.2:p.Ser21661Asn
NM_003319.4:c.37787G>A (TTN) NP_003310.4:p.Ser12596Asn
NM_133378.4:c.57278G>A (TTN) NP_596869.4:p.Ser19093Asn
NM_133432.3:c.38162G>A (TTN) NP_597676.3:p.Ser12721Asn
NM_133437.4:c.38363G>A (TTN) NP_597681.4:p.Ser12788Asn
NR_038271.1:n.597-13027C>T (TTN-AS1)
NR_038272.1:n.2768-4C>T (TTN-AS1)
XM_011511729.1:c.64079G>A (TTN) XP_011510031.1:p.Ser21360Asn
XM_011511730.1:c.37973G>A (TTN) XP_011510032.1:p.Ser12658Asn
XM_011511731.1:c.37832G>A (TTN) XP_011510033.1:p.Ser12611Asn
XM_017004819.1:c.63875G>A (TTN) XP_016860308.1:p.Ser21292Asn
XM_017004820.1:c.59273G>A (TTN) XP_016860309.1:p.Ser19758Asn
XM_017004821.1:c.59270G>A (TTN) XP_016860310.1:p.Ser19757Asn
XM_017004822.1:c.56312G>A (TTN) XP_016860311.1:p.Ser18771Asn
XM_017004823.1:c.37928G>A (TTN) XP_016860312.1:p.Ser12643Asn
XM_024453094.1:c.59423G>A (TTN) XP_024308862.1:p.Ser19808Asn
XM_024453095.1:c.59420G>A (TTN) XP_024308863.1:p.Ser19807Asn
XM_024453096.1:c.58853G>A (TTN) XP_024308864.1:p.Ser19618Asn
XM_024453097.1:c.56195G>A (TTN) XP_024308865.1:p.Ser18732Asn
XM_024453098.1:c.56114G>A (TTN) XP_024308866.1:p.Ser18705Asn
XM_024453099.1:c.37877G>A (TTN) XP_024308867.1:p.Ser12626Asn
XM_024453100.1:c.27731G>A (TTN) XP_024308868.1:p.Ser9244Asn