Canonical Allele Identifier: CA349533830

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178557414A>C , CM000664.2:g.178557414A>C	GRCh38
NC_000002.11:g.179422141A>C , CM000664.1:g.179422141A>C	GRCh37
NC_000002.10:g.179130387A>C	NCBI36
NG_011618.3:g.278389T>G , LRG_391:g.278389T>G
NG_051363.1:g.39588A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.87848T>G (TTN) MANE Select	NP_001254479.2:p.Leu29283Ter
ENST00000589042.5:c.87848T>G (TTN) MANE Select	ENSP00000467141.1:p.Leu29283Ter
NM_001256850.1:c.82925T>G (TTN)	NP_001243779.1:p.Leu27642Ter
NM_003319.4:c.60653T>G (TTN)	NP_003310.4:p.Leu20218Ter
NM_133378.4:c.80144T>G (TTN)	NP_596869.4:p.Leu26715Ter
NM_133432.3:c.61028T>G (TTN)	NP_597676.3:p.Leu20343Ter
NM_133437.4:c.61229T>G (TTN)	NP_597681.4:p.Leu20410Ter
NR_038271.1:n.447-13886A>C (TTN-AS1)
NR_038272.1:n.2043+15053A>C (TTN-AS1)
ENST00000342175.10:c.61229T>G (TTN)	ENSP00000340554.6:p.Leu20410Ter
ENST00000342175.11:c.61229T>G (TTN)	ENSP00000340554.6:p.Leu20410Ter
ENST00000342992.10:c.80144T>G (TTN)	ENSP00000343764.6:p.Leu26715Ter
ENST00000342992.11:c.80144T>G (TTN)	ENSP00000343764.6:p.Leu26715Ter
ENST00000359218.10:c.61028T>G (TTN)	ENSP00000352154.5:p.Leu20343Ter
ENST00000359218.9:c.61028T>G (TTN)	ENSP00000352154.5:p.Leu20343Ter
ENST00000460472.6:c.60653T>G (TTN)	ENSP00000434586.1:p.Leu20218Ter
ENST00000591111.5:c.82925T>G (TTN)	ENSP00000465570.1:p.Leu27642Ter
ENST00000615779.4:c.82925T>G (TTN)	ENSP00000483597.1:p.Leu27642Ter
XM_011511729.1:c.86945T>G (TTN)	XP_011510031.1:p.Leu28982Ter
XM_011511730.1:c.60839T>G (TTN)	XP_011510032.1:p.Leu20280Ter
XM_011511731.1:c.60698T>G (TTN)	XP_011510033.1:p.Leu20233Ter
XM_017004819.1:c.86741T>G (TTN)	XP_016860308.1:p.Leu28914Ter
XM_017004820.1:c.82139T>G (TTN)	XP_016860309.1:p.Leu27380Ter
XM_017004821.1:c.82136T>G (TTN)	XP_016860310.1:p.Leu27379Ter
XM_017004822.1:c.79178T>G (TTN)	XP_016860311.1:p.Leu26393Ter
XM_017004823.1:c.60794T>G (TTN)	XP_016860312.1:p.Leu20265Ter
XM_024453094.1:c.82289T>G (TTN)	XP_024308862.1:p.Leu27430Ter
XM_024453095.1:c.82286T>G (TTN)	XP_024308863.1:p.Leu27429Ter
XM_024453096.1:c.81719T>G (TTN)	XP_024308864.1:p.Leu27240Ter
XM_024453097.1:c.79061T>G (TTN)	XP_024308865.1:p.Leu26354Ter
XM_024453098.1:c.78980T>G (TTN)	XP_024308866.1:p.Leu26327Ter
XM_024453099.1:c.60743T>G (TTN)	XP_024308867.1:p.Leu20248Ter
XM_024453100.1:c.50597T>G (TTN)	XP_024308868.1:p.Leu16866Ter