Canonical Allele Identifier: CA349422852

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178535795-G-T
• MyVariant Identifiers: chr2:g.179400522G>T (hg19) ; chr2:g.178535795G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178535795G>T , CM000664.2:g.178535795G>T	GRCh38
NC_000002.11:g.179400522G>T , CM000664.1:g.179400522G>T	GRCh37
NC_000002.10:g.179108768G>T	NCBI36
NG_011618.3:g.300008C>A , LRG_391:g.300008C>A
NG_051363.1:g.17969G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.93116C>A (TTN)	ENSP00000343764.6:p.Ala31039Asp
ENST00000342175.11:c.74201C>A (TTN)	ENSP00000340554.6:p.Ala24734Asp
ENST00000359218.10:c.74000C>A (TTN)	ENSP00000352154.5:p.Ala24667Asp
ENST00000342175.10:c.74201C>A (TTN)	ENSP00000340554.6:p.Ala24734Asp
ENST00000342992.10:c.93116C>A (TTN)	ENSP00000343764.6:p.Ala31039Asp
ENST00000359218.9:c.74000C>A (TTN)	ENSP00000352154.5:p.Ala24667Asp
ENST00000460472.6:c.73625C>A (TTN)	ENSP00000434586.1:p.Ala24542Asp
ENST00000589042.5:c.100820C>A (TTN) MANE Select	ENSP00000467141.1:p.Ala33607Asp
ENST00000591111.5:c.95897C>A (TTN)	ENSP00000465570.1:p.Ala31966Asp
ENST00000615779.4:c.95897C>A (TTN)	ENSP00000483597.1:p.Ala31966Asp
NM_001256850.1:c.95897C>A (TTN)	NP_001243779.1:p.Ala31966Asp
NM_001267550.2:c.100820C>A (TTN) MANE Select	NP_001254479.2:p.Ala33607Asp
NM_003319.4:c.73625C>A (TTN)	NP_003310.4:p.Ala24542Asp
NM_133378.4:c.93116C>A (TTN)	NP_596869.4:p.Ala31039Asp
NM_133432.3:c.74000C>A (TTN)	NP_597676.3:p.Ala24667Asp
NM_133437.4:c.74201C>A (TTN)	NP_597681.4:p.Ala24734Asp
NR_038271.1:n.446+12159G>T (TTN-AS1)
NR_038272.1:n.283G>T (TTN-AS1)
XM_011511729.1:c.99917C>A (TTN)	XP_011510031.1:p.Ala33306Asp
XM_011511730.1:c.73811C>A (TTN)	XP_011510032.1:p.Ala24604Asp
XM_011511731.1:c.73670C>A (TTN)	XP_011510033.1:p.Ala24557Asp
XM_017004819.1:c.99713C>A (TTN)	XP_016860308.1:p.Ala33238Asp
XM_017004820.1:c.95111C>A (TTN)	XP_016860309.1:p.Ala31704Asp
XM_017004821.1:c.95108C>A (TTN)	XP_016860310.1:p.Ala31703Asp
XM_017004822.1:c.92150C>A (TTN)	XP_016860311.1:p.Ala30717Asp
XM_017004823.1:c.73766C>A (TTN)	XP_016860312.1:p.Ala24589Asp
XM_024453094.1:c.95261C>A (TTN)	XP_024308862.1:p.Ala31754Asp
XM_024453095.1:c.95258C>A (TTN)	XP_024308863.1:p.Ala31753Asp
XM_024453096.1:c.94691C>A (TTN)	XP_024308864.1:p.Ala31564Asp
XM_024453097.1:c.92033C>A (TTN)	XP_024308865.1:p.Ala30678Asp
XM_024453098.1:c.91952C>A (TTN)	XP_024308866.1:p.Ala30651Asp
XM_024453099.1:c.73715C>A (TTN)	XP_024308867.1:p.Ala24572Asp
XM_024453100.1:c.63569C>A (TTN)	XP_024308868.1:p.Ala21190Asp