Canonical Allele Identifier: CA349431203
Community Standard Title: NM_001267550.2(TTN):c.98990-2A>C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178538841T>G , CM000664.2:g.178538841T>G GRCh38
NC_000002.11:g.179403568T>G , CM000664.1:g.179403568T>G GRCh37
NC_000002.10:g.179111814T>G NCBI36
NG_011618.3:g.296962A>C , LRG_391:g.296962A>C
NG_051363.1:g.21015T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.98990-2A>C (TTN) MANE Select NP_001254479.2:n.98990-2A>C
ENST00000589042.5:c.98990-2A>C (TTN) MANE Select ENSP00000467141.1:n.98990-2A>C
NM_001256850.1:c.94067-2A>C (TTN) NP_001243779.1:n.94067-2A>C
NM_003319.4:c.71795-2A>C (TTN) NP_003310.4:n.71795-2A>C
NM_133378.4:c.91286-2A>C (TTN) NP_596869.4:n.91286-2A>C
NM_133432.3:c.72170-2A>C (TTN) NP_597676.3:n.72170-2A>C
NM_133437.4:c.72371-2A>C (TTN) NP_597681.4:n.72371-2A>C
NR_038271.1:n.446+15205T>G (TTN-AS1)
NR_038272.1:n.791T>G (TTN-AS1)
ENST00000342175.10:c.72371-2A>C (TTN) ENSP00000340554.6:n.72371-2A>C
ENST00000342175.11:c.72371-2A>C (TTN) ENSP00000340554.6:n.72371-2A>C
ENST00000342992.10:c.91286-2A>C (TTN) ENSP00000343764.6:n.91286-2A>C
ENST00000342992.11:c.91286-2A>C (TTN) ENSP00000343764.6:n.91286-2A>C
ENST00000359218.10:c.72170-2A>C (TTN) ENSP00000352154.5:n.72170-2A>C
ENST00000359218.9:c.72170-2A>C (TTN) ENSP00000352154.5:n.72170-2A>C
ENST00000460472.6:c.71795-2A>C (TTN) ENSP00000434586.1:n.71795-2A>C
ENST00000591111.5:c.94067-2A>C (TTN) ENSP00000465570.1:n.94067-2A>C
ENST00000615779.4:c.94067-2A>C (TTN) ENSP00000483597.1:n.94067-2A>C
XM_011511729.1:c.98087-2A>C (TTN) XP_011510031.1:n.98087-2A>C
XM_011511730.1:c.71981-2A>C (TTN) XP_011510032.1:n.71981-2A>C
XM_011511731.1:c.71840-2A>C (TTN) XP_011510033.1:n.71840-2A>C
XM_017004819.1:c.97883-2A>C (TTN) XP_016860308.1:n.97883-2A>C
XM_017004820.1:c.93281-2A>C (TTN) XP_016860309.1:n.93281-2A>C
XM_017004821.1:c.93278-2A>C (TTN) XP_016860310.1:n.93278-2A>C
XM_017004822.1:c.90320-2A>C (TTN) XP_016860311.1:n.90320-2A>C
XM_017004823.1:c.71936-2A>C (TTN) XP_016860312.1:n.71936-2A>C
XM_024453094.1:c.93431-2A>C (TTN) XP_024308862.1:n.93431-2A>C
XM_024453095.1:c.93428-2A>C (TTN) XP_024308863.1:n.93428-2A>C
XM_024453096.1:c.92861-2A>C (TTN) XP_024308864.1:n.92861-2A>C
XM_024453097.1:c.90203-2A>C (TTN) XP_024308865.1:n.90203-2A>C
XM_024453098.1:c.90122-2A>C (TTN) XP_024308866.1:n.90122-2A>C
XM_024453099.1:c.71885-2A>C (TTN) XP_024308867.1:n.71885-2A>C
XM_024453100.1:c.61739-2A>C (TTN) XP_024308868.1:n.61739-2A>C