Canonical Allele Identifier: CA349471008

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179411437G>A (hg19) ; chr2:g.178546710G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546710G>A , CM000664.2:g.178546710G>A	GRCh38
NC_000002.11:g.179411437G>A , CM000664.1:g.179411437G>A	GRCh37
NC_000002.10:g.179119683G>A	NCBI36
NG_011618.3:g.289093C>T , LRG_391:g.289093C>T
NG_051363.1:g.28884G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.87014C>T (TTN)	ENSP00000343764.6:p.Ala29005Val
ENST00000342175.11:c.68099C>T (TTN)	ENSP00000340554.6:p.Ala22700Val
ENST00000359218.10:c.67898C>T (TTN)	ENSP00000352154.5:p.Ala22633Val
ENST00000342175.10:c.68099C>T (TTN)	ENSP00000340554.6:p.Ala22700Val
ENST00000342992.10:c.87014C>T (TTN)	ENSP00000343764.6:p.Ala29005Val
ENST00000359218.9:c.67898C>T (TTN)	ENSP00000352154.5:p.Ala22633Val
ENST00000460472.6:c.67523C>T (TTN)	ENSP00000434586.1:p.Ala22508Val
ENST00000589042.5:c.94718C>T (TTN) MANE Select	ENSP00000467141.1:p.Ala31573Val
ENST00000591111.5:c.89795C>T (TTN)	ENSP00000465570.1:p.Ala29932Val
ENST00000615779.4:c.89795C>T (TTN)	ENSP00000483597.1:p.Ala29932Val
NM_001256850.1:c.89795C>T (TTN)	NP_001243779.1:p.Ala29932Val
NM_001267550.2:c.94718C>T (TTN) MANE Select	NP_001254479.2:p.Ala31573Val
NM_003319.4:c.67523C>T (TTN)	NP_003310.4:p.Ala22508Val
NM_133378.4:c.87014C>T (TTN)	NP_596869.4:p.Ala29005Val
NM_133432.3:c.67898C>T (TTN)	NP_597676.3:p.Ala22633Val
NM_133437.4:c.68099C>T (TTN)	NP_597681.4:p.Ala22700Val
NR_038271.1:n.446+23074G>A (TTN-AS1)
NR_038272.1:n.2043+4349G>A (TTN-AS1)
XM_011511729.1:c.93815C>T (TTN)	XP_011510031.1:p.Ala31272Val
XM_011511730.1:c.67709C>T (TTN)	XP_011510032.1:p.Ala22570Val
XM_011511731.1:c.67568C>T (TTN)	XP_011510033.1:p.Ala22523Val
XM_017004819.1:c.93611C>T (TTN)	XP_016860308.1:p.Ala31204Val
XM_017004820.1:c.89009C>T (TTN)	XP_016860309.1:p.Ala29670Val
XM_017004821.1:c.89006C>T (TTN)	XP_016860310.1:p.Ala29669Val
XM_017004822.1:c.86048C>T (TTN)	XP_016860311.1:p.Ala28683Val
XM_017004823.1:c.67664C>T (TTN)	XP_016860312.1:p.Ala22555Val
XM_024453094.1:c.89159C>T (TTN)	XP_024308862.1:p.Ala29720Val
XM_024453095.1:c.89156C>T (TTN)	XP_024308863.1:p.Ala29719Val
XM_024453096.1:c.88589C>T (TTN)	XP_024308864.1:p.Ala29530Val
XM_024453097.1:c.85931C>T (TTN)	XP_024308865.1:p.Ala28644Val
XM_024453098.1:c.85850C>T (TTN)	XP_024308866.1:p.Ala28617Val
XM_024453099.1:c.67613C>T (TTN)	XP_024308867.1:p.Ala22538Val
XM_024453100.1:c.57467C>T (TTN)	XP_024308868.1:p.Ala19156Val