Canonical Allele Identifier: CA349544060

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178559736-G-A
• MyVariant Identifiers: chr2:g.179424463G>A (hg19) ; chr2:g.178559736G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178559736G>A , CM000664.2:g.178559736G>A	GRCh38
NC_000002.11:g.179424463G>A , CM000664.1:g.179424463G>A	GRCh37
NC_000002.10:g.179132709G>A	NCBI36
NG_011618.3:g.276067C>T , LRG_391:g.276067C>T
NG_051363.1:g.41910G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.78692C>T (TTN)	ENSP00000343764.6:p.Ala26231Val
ENST00000342175.11:c.59777C>T (TTN)	ENSP00000340554.6:p.Ala19926Val
ENST00000359218.10:c.59576C>T (TTN)	ENSP00000352154.5:p.Ala19859Val
ENST00000342175.10:c.59777C>T (TTN)	ENSP00000340554.6:p.Ala19926Val
ENST00000342992.10:c.78692C>T (TTN)	ENSP00000343764.6:p.Ala26231Val
ENST00000359218.9:c.59576C>T (TTN)	ENSP00000352154.5:p.Ala19859Val
ENST00000460472.6:c.59201C>T (TTN)	ENSP00000434586.1:p.Ala19734Val
ENST00000589042.5:c.86396C>T (TTN) MANE Select	ENSP00000467141.1:p.Ala28799Val
ENST00000591111.5:c.81473C>T (TTN)	ENSP00000465570.1:p.Ala27158Val
ENST00000615779.4:c.81473C>T (TTN)	ENSP00000483597.1:p.Ala27158Val
NM_001256850.1:c.81473C>T (TTN)	NP_001243779.1:p.Ala27158Val
NM_001267550.2:c.86396C>T (TTN) MANE Select	NP_001254479.2:p.Ala28799Val
NM_003319.4:c.59201C>T (TTN)	NP_003310.4:p.Ala19734Val
NM_133378.4:c.78692C>T (TTN)	NP_596869.4:p.Ala26231Val
NM_133432.3:c.59576C>T (TTN)	NP_597676.3:p.Ala19859Val
NM_133437.4:c.59777C>T (TTN)	NP_597681.4:p.Ala19926Val
NR_038271.1:n.447-11564G>A (TTN-AS1)
NR_038272.1:n.2043+17375G>A (TTN-AS1)
XM_011511729.1:c.85493C>T (TTN)	XP_011510031.1:p.Ala28498Val
XM_011511730.1:c.59387C>T (TTN)	XP_011510032.1:p.Ala19796Val
XM_011511731.1:c.59246C>T (TTN)	XP_011510033.1:p.Ala19749Val
XM_017004819.1:c.85289C>T (TTN)	XP_016860308.1:p.Ala28430Val
XM_017004820.1:c.80687C>T (TTN)	XP_016860309.1:p.Ala26896Val
XM_017004821.1:c.80684C>T (TTN)	XP_016860310.1:p.Ala26895Val
XM_017004822.1:c.77726C>T (TTN)	XP_016860311.1:p.Ala25909Val
XM_017004823.1:c.59342C>T (TTN)	XP_016860312.1:p.Ala19781Val
XM_024453094.1:c.80837C>T (TTN)	XP_024308862.1:p.Ala26946Val
XM_024453095.1:c.80834C>T (TTN)	XP_024308863.1:p.Ala26945Val
XM_024453096.1:c.80267C>T (TTN)	XP_024308864.1:p.Ala26756Val
XM_024453097.1:c.77609C>T (TTN)	XP_024308865.1:p.Ala25870Val
XM_024453098.1:c.77528C>T (TTN)	XP_024308866.1:p.Ala25843Val
XM_024453099.1:c.59291C>T (TTN)	XP_024308867.1:p.Ala19764Val
XM_024453100.1:c.49145C>T (TTN)	XP_024308868.1:p.Ala16382Val