Canonical Allele Identifier: CA140992

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178561671G>A , CM000664.2:g.178561671G>A	GRCh38
NC_000002.11:g.179426398G>A , CM000664.1:g.179426398G>A	GRCh37
NC_000002.10:g.179134644G>A	NCBI36
NG_011618.3:g.274132C>T , LRG_391:g.274132C>T
NG_051363.1:g.43845G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.84461C>T (TTN) MANE Select	NP_001254479.2:p.Pro28154Leu
ENST00000589042.5:c.84461C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro28154Leu
NM_001256850.1:c.79538C>T (TTN)	NP_001243779.1:p.Pro26513Leu
NM_003319.4:c.57266C>T (TTN)	NP_003310.4:p.Pro19089Leu
NM_133378.4:c.76757C>T (TTN)	NP_596869.4:p.Pro25586Leu
NM_133432.3:c.57641C>T (TTN)	NP_597676.3:p.Pro19214Leu
NM_133437.4:c.57842C>T (TTN)	NP_597681.4:p.Pro19281Leu
NR_038271.1:n.447-9629G>A (TTN-AS1)
NR_038272.1:n.2043+19310G>A (TTN-AS1)
ENST00000342175.10:c.57842C>T (TTN)	ENSP00000340554.6:p.Pro19281Leu
ENST00000342175.11:c.57842C>T (TTN)	ENSP00000340554.6:p.Pro19281Leu
ENST00000342992.10:c.76757C>T (TTN)	ENSP00000343764.6:p.Pro25586Leu
ENST00000342992.11:c.76757C>T (TTN)	ENSP00000343764.6:p.Pro25586Leu
ENST00000359218.10:c.57641C>T (TTN)	ENSP00000352154.5:p.Pro19214Leu
ENST00000359218.9:c.57641C>T (TTN)	ENSP00000352154.5:p.Pro19214Leu
ENST00000460472.6:c.57266C>T (TTN)	ENSP00000434586.1:p.Pro19089Leu
ENST00000591111.5:c.79538C>T (TTN)	ENSP00000465570.1:p.Pro26513Leu
ENST00000615779.4:c.79538C>T (TTN)	ENSP00000483597.1:p.Pro26513Leu
XM_011511729.1:c.83558C>T (TTN)	XP_011510031.1:p.Pro27853Leu
XM_011511730.1:c.57452C>T (TTN)	XP_011510032.1:p.Pro19151Leu
XM_011511731.1:c.57311C>T (TTN)	XP_011510033.1:p.Pro19104Leu
XM_017004819.1:c.83354C>T (TTN)	XP_016860308.1:p.Pro27785Leu
XM_017004820.1:c.78752C>T (TTN)	XP_016860309.1:p.Pro26251Leu
XM_017004821.1:c.78749C>T (TTN)	XP_016860310.1:p.Pro26250Leu
XM_017004822.1:c.75791C>T (TTN)	XP_016860311.1:p.Pro25264Leu
XM_017004823.1:c.57407C>T (TTN)	XP_016860312.1:p.Pro19136Leu
XM_024453094.1:c.78902C>T (TTN)	XP_024308862.1:p.Pro26301Leu
XM_024453095.1:c.78899C>T (TTN)	XP_024308863.1:p.Pro26300Leu
XM_024453096.1:c.78332C>T (TTN)	XP_024308864.1:p.Pro26111Leu
XM_024453097.1:c.75674C>T (TTN)	XP_024308865.1:p.Pro25225Leu
XM_024453098.1:c.75593C>T (TTN)	XP_024308866.1:p.Pro25198Leu
XM_024453099.1:c.57356C>T (TTN)	XP_024308867.1:p.Pro19119Leu
XM_024453100.1:c.47210C>T (TTN)	XP_024308868.1:p.Pro15737Leu