Canonical Allele Identifier: CA430238959

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178537074-G-T
• MyVariant Identifiers: chr2:g.179401801G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537074G>T , CM000664.2:g.178537074G>T	GRCh38
NC_000002.11:g.179401801G>T , CM000664.1:g.179401801G>T	GRCh37
NC_000002.10:g.179110047G>T	NCBI36
NG_011618.3:g.298729C>A , LRG_391:g.298729C>A
NG_051363.1:g.19248G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.92331C>A (TTN)	ENSP00000343764.6:p.Ala30777=
ENST00000342175.11:c.73416C>A (TTN)	ENSP00000340554.6:p.Ala24472=
ENST00000359218.10:c.73215C>A (TTN)	ENSP00000352154.5:p.Ala24405=
ENST00000342175.10:c.73416C>A (TTN)	ENSP00000340554.6:p.Ala24472=
ENST00000342992.10:c.92331C>A (TTN)	ENSP00000343764.6:p.Ala30777=
ENST00000359218.9:c.73215C>A (TTN)	ENSP00000352154.5:p.Ala24405=
ENST00000460472.6:c.72840C>A (TTN)	ENSP00000434586.1:p.Ala24280=
ENST00000589042.5:c.100035C>A (TTN) MANE Select	ENSP00000467141.1:p.Ala33345=
ENST00000591111.5:c.95112C>A (TTN)	ENSP00000465570.1:p.Ala31704=
ENST00000615779.4:c.95112C>A (TTN)	ENSP00000483597.1:p.Ala31704=
NM_001256850.1:c.95112C>A (TTN)	NP_001243779.1:p.Ala31704=
NM_001267550.2:c.100035C>A (TTN) MANE Select	NP_001254479.2:p.Ala33345=
NM_003319.4:c.72840C>A (TTN)	NP_003310.4:p.Ala24280=
NM_133378.4:c.92331C>A (TTN)	NP_596869.4:p.Ala30777=
NM_133432.3:c.73215C>A (TTN)	NP_597676.3:p.Ala24405=
NM_133437.4:c.73416C>A (TTN)	NP_597681.4:p.Ala24472=
NR_038271.1:n.446+13438G>T (TTN-AS1)
NR_038272.1:n.317-287G>T (TTN-AS1)
XM_011511729.1:c.99132C>A (TTN)	XP_011510031.1:p.Ala33044=
XM_011511730.1:c.73026C>A (TTN)	XP_011510032.1:p.Ala24342=
XM_011511731.1:c.72885C>A (TTN)	XP_011510033.1:p.Ala24295=
XM_017004819.1:c.98928C>A (TTN)	XP_016860308.1:p.Ala32976=
XM_017004820.1:c.94326C>A (TTN)	XP_016860309.1:p.Ala31442=
XM_017004821.1:c.94323C>A (TTN)	XP_016860310.1:p.Ala31441=
XM_017004822.1:c.91365C>A (TTN)	XP_016860311.1:p.Ala30455=
XM_017004823.1:c.72981C>A (TTN)	XP_016860312.1:p.Ala24327=
XM_024453094.1:c.94476C>A (TTN)	XP_024308862.1:p.Ala31492=
XM_024453095.1:c.94473C>A (TTN)	XP_024308863.1:p.Ala31491=
XM_024453096.1:c.93906C>A (TTN)	XP_024308864.1:p.Ala31302=
XM_024453097.1:c.91248C>A (TTN)	XP_024308865.1:p.Ala30416=
XM_024453098.1:c.91167C>A (TTN)	XP_024308866.1:p.Ala30389=
XM_024453099.1:c.72930C>A (TTN)	XP_024308867.1:p.Ala24310=
XM_024453100.1:c.62784C>A (TTN)	XP_024308868.1:p.Ala20928=