Canonical Allele Identifier: CA16603992

Linked Data

ClinVar Variation Id: 389666
ClinVar RCV Id: RCV000431348
dbSNP Id: rs1057523502

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178568920G>A , CM000664.2:g.178568920G>A GRCh38
NC_000002.11:g.179433647G>A , CM000664.1:g.179433647G>A GRCh37
NC_000002.10:g.179141893G>A NCBI36
NG_011618.3:g.266883C>T , LRG_391:g.266883C>T
NG_051363.1:g.51094G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.69508C>T (TTN) ENSP00000343764.6:p.Gln23170Ter
ENST00000342175.11:c.50593C>T (TTN) ENSP00000340554.6:p.Gln16865Ter
ENST00000359218.10:c.50392C>T (TTN) ENSP00000352154.5:p.Gln16798Ter
ENST00000342175.10:c.50593C>T (TTN) ENSP00000340554.6:p.Gln16865Ter
ENST00000342992.10:c.69508C>T (TTN) ENSP00000343764.6:p.Gln23170Ter
ENST00000359218.9:c.50392C>T (TTN) ENSP00000352154.5:p.Gln16798Ter
ENST00000460472.6:c.50017C>T (TTN) ENSP00000434586.1:p.Gln16673Ter
ENST00000589042.5:c.77212C>T (TTN) MANE Select ENSP00000467141.1:p.Gln25738Ter
ENST00000591111.5:c.72289C>T (TTN) ENSP00000465570.1:p.Gln24097Ter
ENST00000615779.4:c.72289C>T (TTN) ENSP00000483597.1:p.Gln24097Ter
NM_001256850.1:c.72289C>T (TTN) NP_001243779.1:p.Gln24097Ter
NM_001267550.2:c.77212C>T (TTN) MANE Select NP_001254479.2:p.Gln25738Ter
NM_003319.4:c.50017C>T (TTN) NP_003310.4:p.Gln16673Ter
NM_133378.4:c.69508C>T (TTN) NP_596869.4:p.Gln23170Ter
NM_133432.3:c.50392C>T (TTN) NP_597676.3:p.Gln16798Ter
NM_133437.4:c.50593C>T (TTN) NP_597681.4:p.Gln16865Ter
NR_038271.1:n.447-2380G>A (TTN-AS1)
NR_038272.1:n.2044-13652G>A (TTN-AS1)
XM_011511729.1:c.76309C>T (TTN) XP_011510031.1:p.Gln25437Ter
XM_011511730.1:c.50203C>T (TTN) XP_011510032.1:p.Gln16735Ter
XM_011511731.1:c.50062C>T (TTN) XP_011510033.1:p.Gln16688Ter
XM_017004819.1:c.76105C>T (TTN) XP_016860308.1:p.Gln25369Ter
XM_017004820.1:c.71503C>T (TTN) XP_016860309.1:p.Gln23835Ter
XM_017004821.1:c.71500C>T (TTN) XP_016860310.1:p.Gln23834Ter
XM_017004822.1:c.68542C>T (TTN) XP_016860311.1:p.Gln22848Ter
XM_017004823.1:c.50158C>T (TTN) XP_016860312.1:p.Gln16720Ter
XM_024453094.1:c.71653C>T (TTN) XP_024308862.1:p.Gln23885Ter
XM_024453095.1:c.71650C>T (TTN) XP_024308863.1:p.Gln23884Ter
XM_024453096.1:c.71083C>T (TTN) XP_024308864.1:p.Gln23695Ter
XM_024453097.1:c.68425C>T (TTN) XP_024308865.1:p.Gln22809Ter
XM_024453098.1:c.68344C>T (TTN) XP_024308866.1:p.Gln22782Ter
XM_024453099.1:c.50107C>T (TTN) XP_024308867.1:p.Gln16703Ter
XM_024453100.1:c.39961C>T (TTN) XP_024308868.1:p.Gln13321Ter