Canonical Allele Identifier: CA349409902

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178531703G>A , CM000664.2:g.178531703G>A	GRCh38
NC_000002.11:g.179396430G>A , CM000664.1:g.179396430G>A	GRCh37
NC_000002.10:g.179104676G>A	NCBI36
NG_011618.3:g.304100C>T , LRG_391:g.304100C>T
NG_051363.1:g.13877G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.104912C>T (TTN) MANE Select	NP_001254479.2:p.Ala34971Val
ENST00000589042.5:c.104912C>T (TTN) MANE Select	ENSP00000467141.1:p.Ala34971Val
NM_001256850.1:c.99989C>T (TTN)	NP_001243779.1:p.Ala33330Val
NM_003319.4:c.77717C>T (TTN)	NP_003310.4:p.Ala25906Val
NM_133378.4:c.97208C>T (TTN)	NP_596869.4:p.Ala32403Val
NM_133432.3:c.78092C>T (TTN)	NP_597676.3:p.Ala26031Val
NM_133437.4:c.78293C>T (TTN)	NP_597681.4:p.Ala26098Val
NR_038271.1:n.446+8067G>A (TTN-AS1)
NR_038272.1:n.220-4029G>A (TTN-AS1)
ENST00000342175.10:c.78293C>T (TTN)	ENSP00000340554.6:p.Ala26098Val
ENST00000342175.11:c.78293C>T (TTN)	ENSP00000340554.6:p.Ala26098Val
ENST00000342992.10:c.97208C>T (TTN)	ENSP00000343764.6:p.Ala32403Val
ENST00000342992.11:c.97208C>T (TTN)	ENSP00000343764.6:p.Ala32403Val
ENST00000359218.10:c.78092C>T (TTN)	ENSP00000352154.5:p.Ala26031Val
ENST00000359218.9:c.78092C>T (TTN)	ENSP00000352154.5:p.Ala26031Val
ENST00000460472.6:c.77717C>T (TTN)	ENSP00000434586.1:p.Ala25906Val
ENST00000591111.5:c.99989C>T (TTN)	ENSP00000465570.1:p.Ala33330Val
ENST00000615779.4:c.99989C>T (TTN)	ENSP00000483597.1:p.Ala33330Val
XM_011511729.1:c.104009C>T (TTN)	XP_011510031.1:p.Ala34670Val
XM_011511730.1:c.77903C>T (TTN)	XP_011510032.1:p.Ala25968Val
XM_011511731.1:c.77762C>T (TTN)	XP_011510033.1:p.Ala25921Val
XM_017004819.1:c.103805C>T (TTN)	XP_016860308.1:p.Ala34602Val
XM_017004820.1:c.99203C>T (TTN)	XP_016860309.1:p.Ala33068Val
XM_017004821.1:c.99200C>T (TTN)	XP_016860310.1:p.Ala33067Val
XM_017004822.1:c.96242C>T (TTN)	XP_016860311.1:p.Ala32081Val
XM_017004823.1:c.77858C>T (TTN)	XP_016860312.1:p.Ala25953Val
XM_024453094.1:c.99353C>T (TTN)	XP_024308862.1:p.Ala33118Val
XM_024453095.1:c.99350C>T (TTN)	XP_024308863.1:p.Ala33117Val
XM_024453096.1:c.98783C>T (TTN)	XP_024308864.1:p.Ala32928Val
XM_024453097.1:c.96125C>T (TTN)	XP_024308865.1:p.Ala32042Val
XM_024453098.1:c.96044C>T (TTN)	XP_024308866.1:p.Ala32015Val
XM_024453099.1:c.77807C>T (TTN)	XP_024308867.1:p.Ala25936Val
XM_024453100.1:c.67661C>T (TTN)	XP_024308868.1:p.Ala22554Val