Canonical Allele Identifier: CA349479011

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179412370A>G (hg19) ; chr2:g.178547643A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178547643A>G , CM000664.2:g.178547643A>G	GRCh38
NC_000002.11:g.179412370A>G , CM000664.1:g.179412370A>G	GRCh37
NC_000002.10:g.179120616A>G	NCBI36
NG_011618.3:g.288160T>C , LRG_391:g.288160T>C
NG_051363.1:g.29817A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.86279T>C (TTN)	ENSP00000343764.6:p.Leu28760Pro
ENST00000342175.11:c.67364T>C (TTN)	ENSP00000340554.6:p.Leu22455Pro
ENST00000359218.10:c.67163T>C (TTN)	ENSP00000352154.5:p.Leu22388Pro
ENST00000342175.10:c.67364T>C (TTN)	ENSP00000340554.6:p.Leu22455Pro
ENST00000342992.10:c.86279T>C (TTN)	ENSP00000343764.6:p.Leu28760Pro
ENST00000359218.9:c.67163T>C (TTN)	ENSP00000352154.5:p.Leu22388Pro
ENST00000460472.6:c.66788T>C (TTN)	ENSP00000434586.1:p.Leu22263Pro
ENST00000589042.5:c.93983T>C (TTN) MANE Select	ENSP00000467141.1:p.Leu31328Pro
ENST00000591111.5:c.89060T>C (TTN)	ENSP00000465570.1:p.Leu29687Pro
ENST00000615779.4:c.89060T>C (TTN)	ENSP00000483597.1:p.Leu29687Pro
NM_001256850.1:c.89060T>C (TTN)	NP_001243779.1:p.Leu29687Pro
NM_001267550.2:c.93983T>C (TTN) MANE Select	NP_001254479.2:p.Leu31328Pro
NM_003319.4:c.66788T>C (TTN)	NP_003310.4:p.Leu22263Pro
NM_133378.4:c.86279T>C (TTN)	NP_596869.4:p.Leu28760Pro
NM_133432.3:c.67163T>C (TTN)	NP_597676.3:p.Leu22388Pro
NM_133437.4:c.67364T>C (TTN)	NP_597681.4:p.Leu22455Pro
NR_038271.1:n.447-23657A>G (TTN-AS1)
NR_038272.1:n.2043+5282A>G (TTN-AS1)
XM_011511729.1:c.93080T>C (TTN)	XP_011510031.1:p.Leu31027Pro
XM_011511730.1:c.66974T>C (TTN)	XP_011510032.1:p.Leu22325Pro
XM_011511731.1:c.66833T>C (TTN)	XP_011510033.1:p.Leu22278Pro
XM_017004819.1:c.92876T>C (TTN)	XP_016860308.1:p.Leu30959Pro
XM_017004820.1:c.88274T>C (TTN)	XP_016860309.1:p.Leu29425Pro
XM_017004821.1:c.88271T>C (TTN)	XP_016860310.1:p.Leu29424Pro
XM_017004822.1:c.85313T>C (TTN)	XP_016860311.1:p.Leu28438Pro
XM_017004823.1:c.66929T>C (TTN)	XP_016860312.1:p.Leu22310Pro
XM_024453094.1:c.88424T>C (TTN)	XP_024308862.1:p.Leu29475Pro
XM_024453095.1:c.88421T>C (TTN)	XP_024308863.1:p.Leu29474Pro
XM_024453096.1:c.87854T>C (TTN)	XP_024308864.1:p.Leu29285Pro
XM_024453097.1:c.85196T>C (TTN)	XP_024308865.1:p.Leu28399Pro
XM_024453098.1:c.85115T>C (TTN)	XP_024308866.1:p.Leu28372Pro
XM_024453099.1:c.66878T>C (TTN)	XP_024308867.1:p.Leu22293Pro
XM_024453100.1:c.56732T>C (TTN)	XP_024308868.1:p.Leu18911Pro