Canonical Allele Identifier: CA309228

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178614297G>T , CM000664.2:g.178614297G>T	GRCh38
NC_000002.11:g.179479024G>T , CM000664.1:g.179479024G>T	GRCh37
NC_000002.10:g.179187269G>T	NCBI36
NG_011618.3:g.221506C>A , LRG_391:g.221506C>A
NG_051363.1:g.96471G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.49100C>A (TTN) MANE Select	NP_001254479.2:p.Ser16367Ter
ENST00000589042.5:c.49100C>A (TTN) MANE Select	ENSP00000467141.1:p.Ser16367Ter
NM_001256850.1:c.44177C>A (TTN)	NP_001243779.1:p.Ser14726Ter
NM_003319.4:c.21905C>A (TTN)	NP_003310.4:p.Ser7302Ter
NM_133378.4:c.41396C>A (TTN)	NP_596869.4:p.Ser13799Ter
NM_133432.3:c.22280C>A (TTN)	NP_597676.3:p.Ser7427Ter
NM_133437.4:c.22481C>A (TTN)	NP_597681.4:p.Ser7494Ter
NR_038271.1:n.1045G>T (TTN-AS1)
ENST00000342175.10:c.22481C>A (TTN)	ENSP00000340554.6:p.Ser7494Ter
ENST00000342175.11:c.22481C>A (TTN)	ENSP00000340554.6:p.Ser7494Ter
ENST00000342992.10:c.41396C>A (TTN)	ENSP00000343764.6:p.Ser13799Ter
ENST00000342992.11:c.41396C>A (TTN)	ENSP00000343764.6:p.Ser13799Ter
ENST00000359218.10:c.22280C>A (TTN)	ENSP00000352154.5:p.Ser7427Ter
ENST00000359218.9:c.22280C>A (TTN)	ENSP00000352154.5:p.Ser7427Ter
ENST00000460472.6:c.21905C>A (TTN)	ENSP00000434586.1:p.Ser7302Ter
ENST00000591111.5:c.44177C>A (TTN)	ENSP00000465570.1:p.Ser14726Ter
ENST00000615779.4:c.44177C>A (TTN)	ENSP00000483597.1:p.Ser14726Ter
XM_011511729.1:c.48197C>A (TTN)	XP_011510031.1:p.Ser16066Ter
XM_011511730.1:c.22091C>A (TTN)	XP_011510032.1:p.Ser7364Ter
XM_011511731.1:c.21950C>A (TTN)	XP_011510033.1:p.Ser7317Ter
XM_017004819.1:c.47993C>A (TTN)	XP_016860308.1:p.Ser15998Ter
XM_017004820.1:c.43391C>A (TTN)	XP_016860309.1:p.Ser14464Ter
XM_017004821.1:c.43388C>A (TTN)	XP_016860310.1:p.Ser14463Ter
XM_017004822.1:c.40430C>A (TTN)	XP_016860311.1:p.Ser13477Ter
XM_017004823.1:c.22046C>A (TTN)	XP_016860312.1:p.Ser7349Ter
XM_024453094.1:c.43541C>A (TTN)	XP_024308862.1:p.Ser14514Ter
XM_024453095.1:c.43538C>A (TTN)	XP_024308863.1:p.Ser14513Ter
XM_024453096.1:c.42971C>A (TTN)	XP_024308864.1:p.Ser14324Ter
XM_024453097.1:c.40313C>A (TTN)	XP_024308865.1:p.Ser13438Ter
XM_024453098.1:c.40232C>A (TTN)	XP_024308866.1:p.Ser13411Ter
XM_024453099.1:c.21995C>A (TTN)	XP_024308867.1:p.Ser7332Ter
XM_024453100.1:c.11849C>A (TTN)	XP_024308868.1:p.Ser3950Ter