Canonical Allele Identifier: CA349592798

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178566208C>A , CM000664.2:g.178566208C>A	GRCh38
NC_000002.11:g.179430935C>A , CM000664.1:g.179430935C>A	GRCh37
NC_000002.10:g.179139181C>A	NCBI36
NG_011618.3:g.269595G>T , LRG_391:g.269595G>T
NG_051363.1:g.48382C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.79924G>T (TTN) MANE Select	NP_001254479.2:p.Gly26642Ter
ENST00000589042.5:c.79924G>T (TTN) MANE Select	ENSP00000467141.1:p.Gly26642Ter
NM_001256850.1:c.75001G>T (TTN)	NP_001243779.1:p.Gly25001Ter
NM_003319.4:c.52729G>T (TTN)	NP_003310.4:p.Gly17577Ter
NM_133378.4:c.72220G>T (TTN)	NP_596869.4:p.Gly24074Ter
NM_133432.3:c.53104G>T (TTN)	NP_597676.3:p.Gly17702Ter
NM_133437.4:c.53305G>T (TTN)	NP_597681.4:p.Gly17769Ter
NR_038271.1:n.447-5092C>A (TTN-AS1)
NR_038272.1:n.2044-16364C>A (TTN-AS1)
ENST00000342175.10:c.53305G>T (TTN)	ENSP00000340554.6:p.Gly17769Ter
ENST00000342175.11:c.53305G>T (TTN)	ENSP00000340554.6:p.Gly17769Ter
ENST00000342992.10:c.72220G>T (TTN)	ENSP00000343764.6:p.Gly24074Ter
ENST00000342992.11:c.72220G>T (TTN)	ENSP00000343764.6:p.Gly24074Ter
ENST00000359218.10:c.53104G>T (TTN)	ENSP00000352154.5:p.Gly17702Ter
ENST00000359218.9:c.53104G>T (TTN)	ENSP00000352154.5:p.Gly17702Ter
ENST00000460472.6:c.52729G>T (TTN)	ENSP00000434586.1:p.Gly17577Ter
ENST00000591111.5:c.75001G>T (TTN)	ENSP00000465570.1:p.Gly25001Ter
ENST00000615779.4:c.75001G>T (TTN)	ENSP00000483597.1:p.Gly25001Ter
XM_011511729.1:c.79021G>T (TTN)	XP_011510031.1:p.Gly26341Ter
XM_011511730.1:c.52915G>T (TTN)	XP_011510032.1:p.Gly17639Ter
XM_011511731.1:c.52774G>T (TTN)	XP_011510033.1:p.Gly17592Ter
XM_017004819.1:c.78817G>T (TTN)	XP_016860308.1:p.Gly26273Ter
XM_017004820.1:c.74215G>T (TTN)	XP_016860309.1:p.Gly24739Ter
XM_017004821.1:c.74212G>T (TTN)	XP_016860310.1:p.Gly24738Ter
XM_017004822.1:c.71254G>T (TTN)	XP_016860311.1:p.Gly23752Ter
XM_017004823.1:c.52870G>T (TTN)	XP_016860312.1:p.Gly17624Ter
XM_024453094.1:c.74365G>T (TTN)	XP_024308862.1:p.Gly24789Ter
XM_024453095.1:c.74362G>T (TTN)	XP_024308863.1:p.Gly24788Ter
XM_024453096.1:c.73795G>T (TTN)	XP_024308864.1:p.Gly24599Ter
XM_024453097.1:c.71137G>T (TTN)	XP_024308865.1:p.Gly23713Ter
XM_024453098.1:c.71056G>T (TTN)	XP_024308866.1:p.Gly23686Ter
XM_024453099.1:c.52819G>T (TTN)	XP_024308867.1:p.Gly17607Ter
XM_024453100.1:c.42673G>T (TTN)	XP_024308868.1:p.Gly14225Ter