Canonical Allele Identifier: CA349522031

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178597805G>A , CM000664.2:g.178597805G>A	GRCh38
NC_000002.11:g.179462532G>A , CM000664.1:g.179462532G>A	GRCh37
NC_000002.10:g.179170777G>A	NCBI36
NG_011618.3:g.237998C>T , LRG_391:g.237998C>T
NG_051363.1:g.79979G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.57277C>T (TTN) MANE Select	NP_001254479.2:p.Gln19093Ter
ENST00000589042.5:c.57277C>T (TTN) MANE Select	ENSP00000467141.1:p.Gln19093Ter
NM_001256850.1:c.52354C>T (TTN)	NP_001243779.1:p.Gln17452Ter
NM_003319.4:c.30082C>T (TTN)	NP_003310.4:p.Gln10028Ter
NM_133378.4:c.49573C>T (TTN)	NP_596869.4:p.Gln16525Ter
NM_133432.3:c.30457C>T (TTN)	NP_597676.3:p.Gln10153Ter
NM_133437.4:c.30658C>T (TTN)	NP_597681.4:p.Gln10220Ter
NR_038271.1:n.682+124G>A (TTN-AS1)
NR_038272.1:n.3450+124G>A (TTN-AS1)
ENST00000342175.10:c.30658C>T (TTN)	ENSP00000340554.6:p.Gln10220Ter
ENST00000342175.11:c.30658C>T (TTN)	ENSP00000340554.6:p.Gln10220Ter
ENST00000342992.10:c.49573C>T (TTN)	ENSP00000343764.6:p.Gln16525Ter
ENST00000342992.11:c.49573C>T (TTN)	ENSP00000343764.6:p.Gln16525Ter
ENST00000359218.10:c.30457C>T (TTN)	ENSP00000352154.5:p.Gln10153Ter
ENST00000359218.9:c.30457C>T (TTN)	ENSP00000352154.5:p.Gln10153Ter
ENST00000460472.6:c.30082C>T (TTN)	ENSP00000434586.1:p.Gln10028Ter
ENST00000591111.5:c.52354C>T (TTN)	ENSP00000465570.1:p.Gln17452Ter
ENST00000615779.4:c.52354C>T (TTN)	ENSP00000483597.1:p.Gln17452Ter
XM_011511729.1:c.56374C>T (TTN)	XP_011510031.1:p.Gln18792Ter
XM_011511730.1:c.30268C>T (TTN)	XP_011510032.1:p.Gln10090Ter
XM_011511731.1:c.30127C>T (TTN)	XP_011510033.1:p.Gln10043Ter
XM_017004819.1:c.56170C>T (TTN)	XP_016860308.1:p.Gln18724Ter
XM_017004820.1:c.51568C>T (TTN)	XP_016860309.1:p.Gln17190Ter
XM_017004821.1:c.51565C>T (TTN)	XP_016860310.1:p.Gln17189Ter
XM_017004822.1:c.48607C>T (TTN)	XP_016860311.1:p.Gln16203Ter
XM_017004823.1:c.30223C>T (TTN)	XP_016860312.1:p.Gln10075Ter
XM_024453094.1:c.51718C>T (TTN)	XP_024308862.1:p.Gln17240Ter
XM_024453095.1:c.51715C>T (TTN)	XP_024308863.1:p.Gln17239Ter
XM_024453096.1:c.51148C>T (TTN)	XP_024308864.1:p.Gln17050Ter
XM_024453097.1:c.48490C>T (TTN)	XP_024308865.1:p.Gln16164Ter
XM_024453098.1:c.48409C>T (TTN)	XP_024308866.1:p.Gln16137Ter
XM_024453099.1:c.30172C>T (TTN)	XP_024308867.1:p.Gln10058Ter
XM_024453100.1:c.20026C>T (TTN)	XP_024308868.1:p.Gln6676Ter