Canonical Allele Identifier: CA349458535
Community Standard Title: NM_001267550.2(TTN):c.95723-2A>C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544508T>G , CM000664.2:g.178544508T>G GRCh38
NC_000002.11:g.179409235T>G , CM000664.1:g.179409235T>G GRCh37
NC_000002.10:g.179117481T>G NCBI36
NG_011618.3:g.291295A>C , LRG_391:g.291295A>C
NG_051363.1:g.26682T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.95723-2A>C (TTN) MANE Select NP_001254479.2:n.95723-2A>C
ENST00000589042.5:c.95723-2A>C (TTN) MANE Select ENSP00000467141.1:n.95723-2A>C
NM_001256850.1:c.90800-2A>C (TTN) NP_001243779.1:n.90800-2A>C
NM_003319.4:c.68528-2A>C (TTN) NP_003310.4:n.68528-2A>C
NM_133378.4:c.88019-2A>C (TTN) NP_596869.4:n.88019-2A>C
NM_133432.3:c.68903-2A>C (TTN) NP_597676.3:n.68903-2A>C
NM_133437.4:c.69104-2A>C (TTN) NP_597681.4:n.69104-2A>C
NR_038271.1:n.446+20872T>G (TTN-AS1)
NR_038272.1:n.2043+2147T>G (TTN-AS1)
ENST00000342175.10:c.69104-2A>C (TTN) ENSP00000340554.6:n.69104-2A>C
ENST00000342175.11:c.69104-2A>C (TTN) ENSP00000340554.6:n.69104-2A>C
ENST00000342992.10:c.88019-2A>C (TTN) ENSP00000343764.6:n.88019-2A>C
ENST00000342992.11:c.88019-2A>C (TTN) ENSP00000343764.6:n.88019-2A>C
ENST00000359218.10:c.68903-2A>C (TTN) ENSP00000352154.5:n.68903-2A>C
ENST00000359218.9:c.68903-2A>C (TTN) ENSP00000352154.5:n.68903-2A>C
ENST00000460472.6:c.68528-2A>C (TTN) ENSP00000434586.1:n.68528-2A>C
ENST00000591111.5:c.90800-2A>C (TTN) ENSP00000465570.1:n.90800-2A>C
ENST00000615779.4:c.90800-2A>C (TTN) ENSP00000483597.1:n.90800-2A>C
XM_011511729.1:c.94820-2A>C (TTN) XP_011510031.1:n.94820-2A>C
XM_011511730.1:c.68714-2A>C (TTN) XP_011510032.1:n.68714-2A>C
XM_011511731.1:c.68573-2A>C (TTN) XP_011510033.1:n.68573-2A>C
XM_017004819.1:c.94616-2A>C (TTN) XP_016860308.1:n.94616-2A>C
XM_017004820.1:c.90014-2A>C (TTN) XP_016860309.1:n.90014-2A>C
XM_017004821.1:c.90011-2A>C (TTN) XP_016860310.1:n.90011-2A>C
XM_017004822.1:c.87053-2A>C (TTN) XP_016860311.1:n.87053-2A>C
XM_017004823.1:c.68669-2A>C (TTN) XP_016860312.1:n.68669-2A>C
XM_024453094.1:c.90164-2A>C (TTN) XP_024308862.1:n.90164-2A>C
XM_024453095.1:c.90161-2A>C (TTN) XP_024308863.1:n.90161-2A>C
XM_024453096.1:c.89594-2A>C (TTN) XP_024308864.1:n.89594-2A>C
XM_024453097.1:c.86936-2A>C (TTN) XP_024308865.1:n.86936-2A>C
XM_024453098.1:c.86855-2A>C (TTN) XP_024308866.1:n.86855-2A>C
XM_024453099.1:c.68618-2A>C (TTN) XP_024308867.1:n.68618-2A>C
XM_024453100.1:c.58472-2A>C (TTN) XP_024308868.1:n.58472-2A>C