Canonical Allele Identifier: CA349637178

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178572382G>A , CM000664.2:g.178572382G>A	GRCh38
NC_000002.11:g.179437109G>A , CM000664.1:g.179437109G>A	GRCh37
NC_000002.10:g.179145355G>A	NCBI36
NG_011618.3:g.263421C>T , LRG_391:g.263421C>T
NG_051363.1:g.54556G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.73750C>T (TTN) MANE Select	NP_001254479.2:p.Gln24584Ter
ENST00000589042.5:c.73750C>T (TTN) MANE Select	ENSP00000467141.1:p.Gln24584Ter
NM_001256850.1:c.68827C>T (TTN)	NP_001243779.1:p.Gln22943Ter
NM_003319.4:c.46555C>T (TTN)	NP_003310.4:p.Gln15519Ter
NM_133378.4:c.66046C>T (TTN)	NP_596869.4:p.Gln22016Ter
NM_133432.3:c.46930C>T (TTN)	NP_597676.3:p.Gln15644Ter
NM_133437.4:c.47131C>T (TTN)	NP_597681.4:p.Gln15711Ter
NR_038271.1:n.596+933G>A (TTN-AS1)
NR_038272.1:n.2044-10190G>A (TTN-AS1)
ENST00000342175.10:c.47131C>T (TTN)	ENSP00000340554.6:p.Gln15711Ter
ENST00000342175.11:c.47131C>T (TTN)	ENSP00000340554.6:p.Gln15711Ter
ENST00000342992.10:c.66046C>T (TTN)	ENSP00000343764.6:p.Gln22016Ter
ENST00000342992.11:c.66046C>T (TTN)	ENSP00000343764.6:p.Gln22016Ter
ENST00000359218.10:c.46930C>T (TTN)	ENSP00000352154.5:p.Gln15644Ter
ENST00000359218.9:c.46930C>T (TTN)	ENSP00000352154.5:p.Gln15644Ter
ENST00000460472.6:c.46555C>T (TTN)	ENSP00000434586.1:p.Gln15519Ter
ENST00000591111.5:c.68827C>T (TTN)	ENSP00000465570.1:p.Gln22943Ter
ENST00000615779.4:c.68827C>T (TTN)	ENSP00000483597.1:p.Gln22943Ter
XM_011511729.1:c.72847C>T (TTN)	XP_011510031.1:p.Gln24283Ter
XM_011511730.1:c.46741C>T (TTN)	XP_011510032.1:p.Gln15581Ter
XM_011511731.1:c.46600C>T (TTN)	XP_011510033.1:p.Gln15534Ter
XM_017004819.1:c.72643C>T (TTN)	XP_016860308.1:p.Gln24215Ter
XM_017004820.1:c.68041C>T (TTN)	XP_016860309.1:p.Gln22681Ter
XM_017004821.1:c.68038C>T (TTN)	XP_016860310.1:p.Gln22680Ter
XM_017004822.1:c.65080C>T (TTN)	XP_016860311.1:p.Gln21694Ter
XM_017004823.1:c.46696C>T (TTN)	XP_016860312.1:p.Gln15566Ter
XM_024453094.1:c.68191C>T (TTN)	XP_024308862.1:p.Gln22731Ter
XM_024453095.1:c.68188C>T (TTN)	XP_024308863.1:p.Gln22730Ter
XM_024453096.1:c.67621C>T (TTN)	XP_024308864.1:p.Gln22541Ter
XM_024453097.1:c.64963C>T (TTN)	XP_024308865.1:p.Gln21655Ter
XM_024453098.1:c.64882C>T (TTN)	XP_024308866.1:p.Gln21628Ter
XM_024453099.1:c.46645C>T (TTN)	XP_024308867.1:p.Gln15549Ter
XM_024453100.1:c.36499C>T (TTN)	XP_024308868.1:p.Gln12167Ter