Canonical Allele Identifier: CA349479861

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179412463T>A (hg19) ; chr2:g.178547736T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178547736T>A , CM000664.2:g.178547736T>A	GRCh38
NC_000002.11:g.179412463T>A , CM000664.1:g.179412463T>A	GRCh37
NC_000002.10:g.179120709T>A	NCBI36
NG_011618.3:g.288067A>T , LRG_391:g.288067A>T
NG_051363.1:g.29910T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86186A>T (TTN)	ENSP00000343764.6:p.Lys28729Ile
ENST00000342175.11:c.67271A>T (TTN)	ENSP00000340554.6:p.Lys22424Ile
ENST00000359218.10:c.67070A>T (TTN)	ENSP00000352154.5:p.Lys22357Ile
ENST00000342175.10:c.67271A>T (TTN)	ENSP00000340554.6:p.Lys22424Ile
ENST00000342992.10:c.86186A>T (TTN)	ENSP00000343764.6:p.Lys28729Ile
ENST00000359218.9:c.67070A>T (TTN)	ENSP00000352154.5:p.Lys22357Ile
ENST00000460472.6:c.66695A>T (TTN)	ENSP00000434586.1:p.Lys22232Ile
ENST00000589042.5:c.93890A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys31297Ile
ENST00000591111.5:c.88967A>T (TTN)	ENSP00000465570.1:p.Lys29656Ile
ENST00000615779.4:c.88967A>T (TTN)	ENSP00000483597.1:p.Lys29656Ile
NM_001256850.1:c.88967A>T (TTN)	NP_001243779.1:p.Lys29656Ile
NM_001267550.2:c.93890A>T (TTN) MANE Select	NP_001254479.2:p.Lys31297Ile
NM_003319.4:c.66695A>T (TTN)	NP_003310.4:p.Lys22232Ile
NM_133378.4:c.86186A>T (TTN)	NP_596869.4:p.Lys28729Ile
NM_133432.3:c.67070A>T (TTN)	NP_597676.3:p.Lys22357Ile
NM_133437.4:c.67271A>T (TTN)	NP_597681.4:p.Lys22424Ile
NR_038271.1:n.447-23564T>A (TTN-AS1)
NR_038272.1:n.2043+5375T>A (TTN-AS1)
XM_011511729.1:c.92987A>T (TTN)	XP_011510031.1:p.Lys30996Ile
XM_011511730.1:c.66881A>T (TTN)	XP_011510032.1:p.Lys22294Ile
XM_011511731.1:c.66740A>T (TTN)	XP_011510033.1:p.Lys22247Ile
XM_017004819.1:c.92783A>T (TTN)	XP_016860308.1:p.Lys30928Ile
XM_017004820.1:c.88181A>T (TTN)	XP_016860309.1:p.Lys29394Ile
XM_017004821.1:c.88178A>T (TTN)	XP_016860310.1:p.Lys29393Ile
XM_017004822.1:c.85220A>T (TTN)	XP_016860311.1:p.Lys28407Ile
XM_017004823.1:c.66836A>T (TTN)	XP_016860312.1:p.Lys22279Ile
XM_024453094.1:c.88331A>T (TTN)	XP_024308862.1:p.Lys29444Ile
XM_024453095.1:c.88328A>T (TTN)	XP_024308863.1:p.Lys29443Ile
XM_024453096.1:c.87761A>T (TTN)	XP_024308864.1:p.Lys29254Ile
XM_024453097.1:c.85103A>T (TTN)	XP_024308865.1:p.Lys28368Ile
XM_024453098.1:c.85022A>T (TTN)	XP_024308866.1:p.Lys28341Ile
XM_024453099.1:c.66785A>T (TTN)	XP_024308867.1:p.Lys22262Ile
XM_024453100.1:c.56639A>T (TTN)	XP_024308868.1:p.Lys18880Ile