Canonical Allele Identifier: CA349536839

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178601011C>T , CM000664.2:g.178601011C>T	GRCh38
NC_000002.11:g.179465738C>T , CM000664.1:g.179465738C>T	GRCh37
NC_000002.10:g.179173983C>T	NCBI36
NG_011618.3:g.234792G>A , LRG_391:g.234792G>A
NG_051363.1:g.83185C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.55893G>A (TTN) MANE Select	NP_001254479.2:p.Trp18631Ter
ENST00000589042.5:c.55893G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp18631Ter
NM_001256850.1:c.50970G>A (TTN)	NP_001243779.1:p.Trp16990Ter
NM_003319.4:c.28698G>A (TTN)	NP_003310.4:p.Trp9566Ter
NM_133378.4:c.48189G>A (TTN)	NP_596869.4:p.Trp16063Ter
NM_133432.3:c.29073G>A (TTN)	NP_597676.3:p.Trp9691Ter
NM_133437.4:c.29274G>A (TTN)	NP_597681.4:p.Trp9758Ter
NR_038271.1:n.682+3330C>T (TTN-AS1)
NR_038272.1:n.3917+344C>T (TTN-AS1)
ENST00000342175.10:c.29274G>A (TTN)	ENSP00000340554.6:p.Trp9758Ter
ENST00000342175.11:c.29274G>A (TTN)	ENSP00000340554.6:p.Trp9758Ter
ENST00000342992.10:c.48189G>A (TTN)	ENSP00000343764.6:p.Trp16063Ter
ENST00000342992.11:c.48189G>A (TTN)	ENSP00000343764.6:p.Trp16063Ter
ENST00000359218.10:c.29073G>A (TTN)	ENSP00000352154.5:p.Trp9691Ter
ENST00000359218.9:c.29073G>A (TTN)	ENSP00000352154.5:p.Trp9691Ter
ENST00000460472.6:c.28698G>A (TTN)	ENSP00000434586.1:p.Trp9566Ter
ENST00000591111.5:c.50970G>A (TTN)	ENSP00000465570.1:p.Trp16990Ter
ENST00000615779.4:c.50970G>A (TTN)	ENSP00000483597.1:p.Trp16990Ter
XM_011511729.1:c.54990G>A (TTN)	XP_011510031.1:p.Trp18330Ter
XM_011511730.1:c.28884G>A (TTN)	XP_011510032.1:p.Trp9628Ter
XM_011511731.1:c.28743G>A (TTN)	XP_011510033.1:p.Trp9581Ter
XM_017004819.1:c.54786G>A (TTN)	XP_016860308.1:p.Trp18262Ter
XM_017004820.1:c.50184G>A (TTN)	XP_016860309.1:p.Trp16728Ter
XM_017004821.1:c.50181G>A (TTN)	XP_016860310.1:p.Trp16727Ter
XM_017004822.1:c.47223G>A (TTN)	XP_016860311.1:p.Trp15741Ter
XM_017004823.1:c.28839G>A (TTN)	XP_016860312.1:p.Trp9613Ter
XM_024453094.1:c.50334G>A (TTN)	XP_024308862.1:p.Trp16778Ter
XM_024453095.1:c.50331G>A (TTN)	XP_024308863.1:p.Trp16777Ter
XM_024453096.1:c.49764G>A (TTN)	XP_024308864.1:p.Trp16588Ter
XM_024453097.1:c.47106G>A (TTN)	XP_024308865.1:p.Trp15702Ter
XM_024453098.1:c.47025G>A (TTN)	XP_024308866.1:p.Trp15675Ter
XM_024453099.1:c.28788G>A (TTN)	XP_024308867.1:p.Trp9596Ter
XM_024453100.1:c.18642G>A (TTN)	XP_024308868.1:p.Trp6214Ter