Canonical Allele Identifier: CA349426908

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179401803C>A (hg19) ; chr2:g.178537076C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537076C>A , CM000664.2:g.178537076C>A	GRCh38
NC_000002.11:g.179401803C>A , CM000664.1:g.179401803C>A	GRCh37
NC_000002.10:g.179110049C>A	NCBI36
NG_011618.3:g.298727G>T , LRG_391:g.298727G>T
NG_051363.1:g.19250C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.92329G>T (TTN)	ENSP00000343764.6:p.Ala30777Ser
ENST00000342175.11:c.73414G>T (TTN)	ENSP00000340554.6:p.Ala24472Ser
ENST00000359218.10:c.73213G>T (TTN)	ENSP00000352154.5:p.Ala24405Ser
ENST00000342175.10:c.73414G>T (TTN)	ENSP00000340554.6:p.Ala24472Ser
ENST00000342992.10:c.92329G>T (TTN)	ENSP00000343764.6:p.Ala30777Ser
ENST00000359218.9:c.73213G>T (TTN)	ENSP00000352154.5:p.Ala24405Ser
ENST00000460472.6:c.72838G>T (TTN)	ENSP00000434586.1:p.Ala24280Ser
ENST00000589042.5:c.100033G>T (TTN) MANE Select	ENSP00000467141.1:p.Ala33345Ser
ENST00000591111.5:c.95110G>T (TTN)	ENSP00000465570.1:p.Ala31704Ser
ENST00000615779.4:c.95110G>T (TTN)	ENSP00000483597.1:p.Ala31704Ser
NM_001256850.1:c.95110G>T (TTN)	NP_001243779.1:p.Ala31704Ser
NM_001267550.2:c.100033G>T (TTN) MANE Select	NP_001254479.2:p.Ala33345Ser
NM_003319.4:c.72838G>T (TTN)	NP_003310.4:p.Ala24280Ser
NM_133378.4:c.92329G>T (TTN)	NP_596869.4:p.Ala30777Ser
NM_133432.3:c.73213G>T (TTN)	NP_597676.3:p.Ala24405Ser
NM_133437.4:c.73414G>T (TTN)	NP_597681.4:p.Ala24472Ser
NR_038271.1:n.446+13440C>A (TTN-AS1)
NR_038272.1:n.317-285C>A (TTN-AS1)
XM_011511729.1:c.99130G>T (TTN)	XP_011510031.1:p.Ala33044Ser
XM_011511730.1:c.73024G>T (TTN)	XP_011510032.1:p.Ala24342Ser
XM_011511731.1:c.72883G>T (TTN)	XP_011510033.1:p.Ala24295Ser
XM_017004819.1:c.98926G>T (TTN)	XP_016860308.1:p.Ala32976Ser
XM_017004820.1:c.94324G>T (TTN)	XP_016860309.1:p.Ala31442Ser
XM_017004821.1:c.94321G>T (TTN)	XP_016860310.1:p.Ala31441Ser
XM_017004822.1:c.91363G>T (TTN)	XP_016860311.1:p.Ala30455Ser
XM_017004823.1:c.72979G>T (TTN)	XP_016860312.1:p.Ala24327Ser
XM_024453094.1:c.94474G>T (TTN)	XP_024308862.1:p.Ala31492Ser
XM_024453095.1:c.94471G>T (TTN)	XP_024308863.1:p.Ala31491Ser
XM_024453096.1:c.93904G>T (TTN)	XP_024308864.1:p.Ala31302Ser
XM_024453097.1:c.91246G>T (TTN)	XP_024308865.1:p.Ala30416Ser
XM_024453098.1:c.91165G>T (TTN)	XP_024308866.1:p.Ala30389Ser
XM_024453099.1:c.72928G>T (TTN)	XP_024308867.1:p.Ala24310Ser
XM_024453100.1:c.62782G>T (TTN)	XP_024308868.1:p.Ala20928Ser