Canonical Allele Identifier: CA349607627

Gene: TTN TTN-AS1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178614639C>T , CM000664.2:g.178614639C>T	GRCh38
NC_000002.11:g.179479366C>T , CM000664.1:g.179479366C>T	GRCh37
NC_000002.10:g.179187611C>T	NCBI36
NG_011618.3:g.221164G>A , LRG_391:g.221164G>A
NG_051363.1:g.96813C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.41171G>A (TTN)	ENSP00000343764.6:p.Trp13724Ter
ENST00000342175.11:c.22256G>A (TTN)	ENSP00000340554.6:p.Trp7419Ter
ENST00000359218.10:c.22055G>A (TTN)	ENSP00000352154.5:p.Trp7352Ter
ENST00000342175.10:c.22256G>A (TTN)	ENSP00000340554.6:p.Trp7419Ter
ENST00000342992.10:c.41171G>A (TTN)	ENSP00000343764.6:p.Trp13724Ter
ENST00000359218.9:c.22055G>A (TTN)	ENSP00000352154.5:p.Trp7352Ter
ENST00000460472.6:c.21680G>A (TTN)	ENSP00000434586.1:p.Trp7227Ter
ENST00000589042.5:c.48875G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp16292Ter
ENST00000591111.5:c.43952G>A (TTN)	ENSP00000465570.1:p.Trp14651Ter
ENST00000615779.4:c.43952G>A (TTN)	ENSP00000483597.1:p.Trp14651Ter
NM_001256850.1:c.43952G>A (TTN)	NP_001243779.1:p.Trp14651Ter
NM_001267550.2:c.48875G>A (TTN) MANE Select	NP_001254479.2:p.Trp16292Ter
NM_003319.4:c.21680G>A (TTN)	NP_003310.4:p.Trp7227Ter
NM_133378.4:c.41171G>A (TTN)	NP_596869.4:p.Trp13724Ter
NM_133432.3:c.22055G>A (TTN)	NP_597676.3:p.Trp7352Ter
NM_133437.4:c.22256G>A (TTN)	NP_597681.4:p.Trp7419Ter
NR_038271.1:n.1387C>T (TTN-AS1)
XM_011511729.1:c.47972G>A (TTN)	XP_011510031.1:p.Trp15991Ter
XM_011511730.1:c.21866G>A (TTN)	XP_011510032.1:p.Trp7289Ter
XM_011511731.1:c.21725G>A (TTN)	XP_011510033.1:p.Trp7242Ter
XM_017004819.1:c.47768G>A (TTN)	XP_016860308.1:p.Trp15923Ter
XM_017004820.1:c.43166G>A (TTN)	XP_016860309.1:p.Trp14389Ter
XM_017004821.1:c.43163G>A (TTN)	XP_016860310.1:p.Trp14388Ter
XM_017004822.1:c.40205G>A (TTN)	XP_016860311.1:p.Trp13402Ter
XM_017004823.1:c.21821G>A (TTN)	XP_016860312.1:p.Trp7274Ter
XM_024453094.1:c.43316G>A (TTN)	XP_024308862.1:p.Trp14439Ter
XM_024453095.1:c.43313G>A (TTN)	XP_024308863.1:p.Trp14438Ter
XM_024453096.1:c.42746G>A (TTN)	XP_024308864.1:p.Trp14249Ter
XM_024453097.1:c.40088G>A (TTN)	XP_024308865.1:p.Trp13363Ter
XM_024453098.1:c.40007G>A (TTN)	XP_024308866.1:p.Trp13336Ter
XM_024453099.1:c.21770G>A (TTN)	XP_024308867.1:p.Trp7257Ter
XM_024453100.1:c.11624G>A (TTN)	XP_024308868.1:p.Trp3875Ter