Canonical Allele Identifier: CA349474159

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178547107A>T , CM000664.2:g.178547107A>T	GRCh38
NC_000002.11:g.179411834A>T , CM000664.1:g.179411834A>T	GRCh37
NC_000002.10:g.179120080A>T	NCBI36
NG_011618.3:g.288696T>A , LRG_391:g.288696T>A
NG_051363.1:g.29281A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.94418T>A (TTN) MANE Select	NP_001254479.2:p.Leu31473Ter
ENST00000589042.5:c.94418T>A (TTN) MANE Select	ENSP00000467141.1:p.Leu31473Ter
NM_001256850.1:c.89495T>A (TTN)	NP_001243779.1:p.Leu29832Ter
NM_003319.4:c.67223T>A (TTN)	NP_003310.4:p.Leu22408Ter
NM_133378.4:c.86714T>A (TTN)	NP_596869.4:p.Leu28905Ter
NM_133432.3:c.67598T>A (TTN)	NP_597676.3:p.Leu22533Ter
NM_133437.4:c.67799T>A (TTN)	NP_597681.4:p.Leu22600Ter
NR_038271.1:n.446+23471A>T (TTN-AS1)
NR_038272.1:n.2043+4746A>T (TTN-AS1)
ENST00000342175.10:c.67799T>A (TTN)	ENSP00000340554.6:p.Leu22600Ter
ENST00000342175.11:c.67799T>A (TTN)	ENSP00000340554.6:p.Leu22600Ter
ENST00000342992.10:c.86714T>A (TTN)	ENSP00000343764.6:p.Leu28905Ter
ENST00000342992.11:c.86714T>A (TTN)	ENSP00000343764.6:p.Leu28905Ter
ENST00000359218.10:c.67598T>A (TTN)	ENSP00000352154.5:p.Leu22533Ter
ENST00000359218.9:c.67598T>A (TTN)	ENSP00000352154.5:p.Leu22533Ter
ENST00000460472.6:c.67223T>A (TTN)	ENSP00000434586.1:p.Leu22408Ter
ENST00000591111.5:c.89495T>A (TTN)	ENSP00000465570.1:p.Leu29832Ter
ENST00000615779.4:c.89495T>A (TTN)	ENSP00000483597.1:p.Leu29832Ter
XM_011511729.1:c.93515T>A (TTN)	XP_011510031.1:p.Leu31172Ter
XM_011511730.1:c.67409T>A (TTN)	XP_011510032.1:p.Leu22470Ter
XM_011511731.1:c.67268T>A (TTN)	XP_011510033.1:p.Leu22423Ter
XM_017004819.1:c.93311T>A (TTN)	XP_016860308.1:p.Leu31104Ter
XM_017004820.1:c.88709T>A (TTN)	XP_016860309.1:p.Leu29570Ter
XM_017004821.1:c.88706T>A (TTN)	XP_016860310.1:p.Leu29569Ter
XM_017004822.1:c.85748T>A (TTN)	XP_016860311.1:p.Leu28583Ter
XM_017004823.1:c.67364T>A (TTN)	XP_016860312.1:p.Leu22455Ter
XM_024453094.1:c.88859T>A (TTN)	XP_024308862.1:p.Leu29620Ter
XM_024453095.1:c.88856T>A (TTN)	XP_024308863.1:p.Leu29619Ter
XM_024453096.1:c.88289T>A (TTN)	XP_024308864.1:p.Leu29430Ter
XM_024453097.1:c.85631T>A (TTN)	XP_024308865.1:p.Leu28544Ter
XM_024453098.1:c.85550T>A (TTN)	XP_024308866.1:p.Leu28517Ter
XM_024453099.1:c.67313T>A (TTN)	XP_024308867.1:p.Leu22438Ter
XM_024453100.1:c.57167T>A (TTN)	XP_024308868.1:p.Leu19056Ter