Canonical Allele Identifier: CA349609249

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178615424A>C , CM000664.2:g.178615424A>C	GRCh38
NC_000002.11:g.179480151A>C , CM000664.1:g.179480151A>C	GRCh37
NC_000002.10:g.179188396A>C	NCBI36
NG_011618.3:g.220379T>G , LRG_391:g.220379T>G
NG_051363.1:g.97598A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.48521T>G (TTN) MANE Select	NP_001254479.2:p.Leu16174Ter
ENST00000589042.5:c.48521T>G (TTN) MANE Select	ENSP00000467141.1:p.Leu16174Ter
NM_001256850.1:c.43598T>G (TTN)	NP_001243779.1:p.Leu14533Ter
NM_003319.4:c.21326T>G (TTN)	NP_003310.4:p.Leu7109Ter
NM_133378.4:c.40817T>G (TTN)	NP_596869.4:p.Leu13606Ter
NM_133432.3:c.21701T>G (TTN)	NP_597676.3:p.Leu7234Ter
NM_133437.4:c.21902T>G (TTN)	NP_597681.4:p.Leu7301Ter
NR_038271.1:n.1604+50A>C (TTN-AS1)
ENST00000342175.10:c.21902T>G (TTN)	ENSP00000340554.6:p.Leu7301Ter
ENST00000342175.11:c.21902T>G (TTN)	ENSP00000340554.6:p.Leu7301Ter
ENST00000342992.10:c.40817T>G (TTN)	ENSP00000343764.6:p.Leu13606Ter
ENST00000342992.11:c.40817T>G (TTN)	ENSP00000343764.6:p.Leu13606Ter
ENST00000359218.10:c.21701T>G (TTN)	ENSP00000352154.5:p.Leu7234Ter
ENST00000359218.9:c.21701T>G (TTN)	ENSP00000352154.5:p.Leu7234Ter
ENST00000460472.6:c.21326T>G (TTN)	ENSP00000434586.1:p.Leu7109Ter
ENST00000591111.5:c.43598T>G (TTN)	ENSP00000465570.1:p.Leu14533Ter
ENST00000615779.4:c.43598T>G (TTN)	ENSP00000483597.1:p.Leu14533Ter
XM_011511729.1:c.47618T>G (TTN)	XP_011510031.1:p.Leu15873Ter
XM_011511730.1:c.21512T>G (TTN)	XP_011510032.1:p.Leu7171Ter
XM_011511731.1:c.21371T>G (TTN)	XP_011510033.1:p.Leu7124Ter
XM_017004819.1:c.47414T>G (TTN)	XP_016860308.1:p.Leu15805Ter
XM_017004820.1:c.42812T>G (TTN)	XP_016860309.1:p.Leu14271Ter
XM_017004821.1:c.42809T>G (TTN)	XP_016860310.1:p.Leu14270Ter
XM_017004822.1:c.39851T>G (TTN)	XP_016860311.1:p.Leu13284Ter
XM_017004823.1:c.21467T>G (TTN)	XP_016860312.1:p.Leu7156Ter
XM_024453094.1:c.42962T>G (TTN)	XP_024308862.1:p.Leu14321Ter
XM_024453095.1:c.42959T>G (TTN)	XP_024308863.1:p.Leu14320Ter
XM_024453096.1:c.42392T>G (TTN)	XP_024308864.1:p.Leu14131Ter
XM_024453097.1:c.39734T>G (TTN)	XP_024308865.1:p.Leu13245Ter
XM_024453098.1:c.39653T>G (TTN)	XP_024308866.1:p.Leu13218Ter
XM_024453099.1:c.21416T>G (TTN)	XP_024308867.1:p.Leu7139Ter
XM_024453100.1:c.11270T>G (TTN)	XP_024308868.1:p.Leu3757Ter