Canonical Allele Identifier: CA349582613

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178609693C>T , CM000664.2:g.178609693C>T GRCh38
NC_000002.11:g.179474420C>T , CM000664.1:g.179474420C>T GRCh37
NC_000002.10:g.179182665C>T NCBI36
NG_011618.3:g.226110G>A , LRG_391:g.226110G>A
NG_051363.1:g.91867C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.44026G>A (TTN) ENSP00000343764.6:p.Asp14676Asn
ENST00000342175.11:c.25111G>A (TTN) ENSP00000340554.6:p.Asp8371Asn
ENST00000359218.10:c.24910G>A (TTN) ENSP00000352154.5:p.Asp8304Asn
ENST00000342175.10:c.25111G>A (TTN) ENSP00000340554.6:p.Asp8371Asn
ENST00000342992.10:c.44026G>A (TTN) ENSP00000343764.6:p.Asp14676Asn
ENST00000359218.9:c.24910G>A (TTN) ENSP00000352154.5:p.Asp8304Asn
ENST00000460472.6:c.24535G>A (TTN) ENSP00000434586.1:p.Asp8179Asn
ENST00000589042.5:c.51730G>A (TTN) MANE Select ENSP00000467141.1:p.Asp17244Asn
ENST00000591111.5:c.46807G>A (TTN) ENSP00000465570.1:p.Asp15603Asn
ENST00000615779.4:c.46807G>A (TTN) ENSP00000483597.1:p.Asp15603Asn
NM_001256850.1:c.46807G>A (TTN) NP_001243779.1:p.Asp15603Asn
NM_001267550.2:c.51730G>A (TTN) MANE Select NP_001254479.2:p.Asp17244Asn
NM_003319.4:c.24535G>A (TTN) NP_003310.4:p.Asp8179Asn
NM_133378.4:c.44026G>A (TTN) NP_596869.4:p.Asp14676Asn
NM_133432.3:c.24910G>A (TTN) NP_597676.3:p.Asp8304Asn
NM_133437.4:c.25111G>A (TTN) NP_597681.4:p.Asp8371Asn
NR_038271.1:n.782+1427C>T (TTN-AS1)
XM_011511729.1:c.50827G>A (TTN) XP_011510031.1:p.Asp16943Asn
XM_011511730.1:c.24721G>A (TTN) XP_011510032.1:p.Asp8241Asn
XM_011511731.1:c.24580G>A (TTN) XP_011510033.1:p.Asp8194Asn
XM_017004819.1:c.50623G>A (TTN) XP_016860308.1:p.Asp16875Asn
XM_017004820.1:c.46021G>A (TTN) XP_016860309.1:p.Asp15341Asn
XM_017004821.1:c.46018G>A (TTN) XP_016860310.1:p.Asp15340Asn
XM_017004822.1:c.43060G>A (TTN) XP_016860311.1:p.Asp14354Asn
XM_017004823.1:c.24676G>A (TTN) XP_016860312.1:p.Asp8226Asn
XM_024453094.1:c.46171G>A (TTN) XP_024308862.1:p.Asp15391Asn
XM_024453095.1:c.46168G>A (TTN) XP_024308863.1:p.Asp15390Asn
XM_024453096.1:c.45601G>A (TTN) XP_024308864.1:p.Asp15201Asn
XM_024453097.1:c.42943G>A (TTN) XP_024308865.1:p.Asp14315Asn
XM_024453098.1:c.42862G>A (TTN) XP_024308866.1:p.Asp14288Asn
XM_024453099.1:c.24625G>A (TTN) XP_024308867.1:p.Asp8209Asn
XM_024453100.1:c.14479G>A (TTN) XP_024308868.1:p.Asp4827Asn