Canonical Allele Identifier: CA349422854

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179400523C>A (hg19) ; chr2:g.178535796C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178535796C>A , CM000664.2:g.178535796C>A	GRCh38
NC_000002.11:g.179400523C>A , CM000664.1:g.179400523C>A	GRCh37
NC_000002.10:g.179108769C>A	NCBI36
NG_011618.3:g.300007G>T , LRG_391:g.300007G>T
NG_051363.1:g.17970C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.93115G>T (TTN)	ENSP00000343764.6:p.Ala31039Ser
ENST00000342175.11:c.74200G>T (TTN)	ENSP00000340554.6:p.Ala24734Ser
ENST00000359218.10:c.73999G>T (TTN)	ENSP00000352154.5:p.Ala24667Ser
ENST00000342175.10:c.74200G>T (TTN)	ENSP00000340554.6:p.Ala24734Ser
ENST00000342992.10:c.93115G>T (TTN)	ENSP00000343764.6:p.Ala31039Ser
ENST00000359218.9:c.73999G>T (TTN)	ENSP00000352154.5:p.Ala24667Ser
ENST00000460472.6:c.73624G>T (TTN)	ENSP00000434586.1:p.Ala24542Ser
ENST00000589042.5:c.100819G>T (TTN) MANE Select	ENSP00000467141.1:p.Ala33607Ser
ENST00000591111.5:c.95896G>T (TTN)	ENSP00000465570.1:p.Ala31966Ser
ENST00000615779.4:c.95896G>T (TTN)	ENSP00000483597.1:p.Ala31966Ser
NM_001256850.1:c.95896G>T (TTN)	NP_001243779.1:p.Ala31966Ser
NM_001267550.2:c.100819G>T (TTN) MANE Select	NP_001254479.2:p.Ala33607Ser
NM_003319.4:c.73624G>T (TTN)	NP_003310.4:p.Ala24542Ser
NM_133378.4:c.93115G>T (TTN)	NP_596869.4:p.Ala31039Ser
NM_133432.3:c.73999G>T (TTN)	NP_597676.3:p.Ala24667Ser
NM_133437.4:c.74200G>T (TTN)	NP_597681.4:p.Ala24734Ser
NR_038271.1:n.446+12160C>A (TTN-AS1)
NR_038272.1:n.284C>A (TTN-AS1)
XM_011511729.1:c.99916G>T (TTN)	XP_011510031.1:p.Ala33306Ser
XM_011511730.1:c.73810G>T (TTN)	XP_011510032.1:p.Ala24604Ser
XM_011511731.1:c.73669G>T (TTN)	XP_011510033.1:p.Ala24557Ser
XM_017004819.1:c.99712G>T (TTN)	XP_016860308.1:p.Ala33238Ser
XM_017004820.1:c.95110G>T (TTN)	XP_016860309.1:p.Ala31704Ser
XM_017004821.1:c.95107G>T (TTN)	XP_016860310.1:p.Ala31703Ser
XM_017004822.1:c.92149G>T (TTN)	XP_016860311.1:p.Ala30717Ser
XM_017004823.1:c.73765G>T (TTN)	XP_016860312.1:p.Ala24589Ser
XM_024453094.1:c.95260G>T (TTN)	XP_024308862.1:p.Ala31754Ser
XM_024453095.1:c.95257G>T (TTN)	XP_024308863.1:p.Ala31753Ser
XM_024453096.1:c.94690G>T (TTN)	XP_024308864.1:p.Ala31564Ser
XM_024453097.1:c.92032G>T (TTN)	XP_024308865.1:p.Ala30678Ser
XM_024453098.1:c.91951G>T (TTN)	XP_024308866.1:p.Ala30651Ser
XM_024453099.1:c.73714G>T (TTN)	XP_024308867.1:p.Ala24572Ser
XM_024453100.1:c.63568G>T (TTN)	XP_024308868.1:p.Ala21190Ser