Canonical Allele Identifier: CA349510932

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179417205A>G (hg19) ; chr2:g.178552478A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552478A>G , CM000664.2:g.178552478A>G	GRCh38
NC_000002.11:g.179417205A>G , CM000664.1:g.179417205A>G	GRCh37
NC_000002.10:g.179125451A>G	NCBI36
NG_011618.3:g.283325T>C , LRG_391:g.283325T>C
NG_051363.1:g.34652A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.82718T>C (TTN)	ENSP00000343764.6:p.Val27573Ala
ENST00000342175.11:c.63803T>C (TTN)	ENSP00000340554.6:p.Val21268Ala
ENST00000359218.10:c.63602T>C (TTN)	ENSP00000352154.5:p.Val21201Ala
ENST00000342175.10:c.63803T>C (TTN)	ENSP00000340554.6:p.Val21268Ala
ENST00000342992.10:c.82718T>C (TTN)	ENSP00000343764.6:p.Val27573Ala
ENST00000359218.9:c.63602T>C (TTN)	ENSP00000352154.5:p.Val21201Ala
ENST00000460472.6:c.63227T>C (TTN)	ENSP00000434586.1:p.Val21076Ala
ENST00000589042.5:c.90422T>C (TTN) MANE Select	ENSP00000467141.1:p.Val30141Ala
ENST00000591111.5:c.85499T>C (TTN)	ENSP00000465570.1:p.Val28500Ala
ENST00000615779.4:c.85499T>C (TTN)	ENSP00000483597.1:p.Val28500Ala
NM_001256850.1:c.85499T>C (TTN)	NP_001243779.1:p.Val28500Ala
NM_001267550.2:c.90422T>C (TTN) MANE Select	NP_001254479.2:p.Val30141Ala
NM_003319.4:c.63227T>C (TTN)	NP_003310.4:p.Val21076Ala
NM_133378.4:c.82718T>C (TTN)	NP_596869.4:p.Val27573Ala
NM_133432.3:c.63602T>C (TTN)	NP_597676.3:p.Val21201Ala
NM_133437.4:c.63803T>C (TTN)	NP_597681.4:p.Val21268Ala
NR_038271.1:n.447-18822A>G (TTN-AS1)
NR_038272.1:n.2043+10117A>G (TTN-AS1)
XM_011511729.1:c.89519T>C (TTN)	XP_011510031.1:p.Val29840Ala
XM_011511730.1:c.63413T>C (TTN)	XP_011510032.1:p.Val21138Ala
XM_011511731.1:c.63272T>C (TTN)	XP_011510033.1:p.Val21091Ala
XM_017004819.1:c.89315T>C (TTN)	XP_016860308.1:p.Val29772Ala
XM_017004820.1:c.84713T>C (TTN)	XP_016860309.1:p.Val28238Ala
XM_017004821.1:c.84710T>C (TTN)	XP_016860310.1:p.Val28237Ala
XM_017004822.1:c.81752T>C (TTN)	XP_016860311.1:p.Val27251Ala
XM_017004823.1:c.63368T>C (TTN)	XP_016860312.1:p.Val21123Ala
XM_024453094.1:c.84863T>C (TTN)	XP_024308862.1:p.Val28288Ala
XM_024453095.1:c.84860T>C (TTN)	XP_024308863.1:p.Val28287Ala
XM_024453096.1:c.84293T>C (TTN)	XP_024308864.1:p.Val28098Ala
XM_024453097.1:c.81635T>C (TTN)	XP_024308865.1:p.Val27212Ala
XM_024453098.1:c.81554T>C (TTN)	XP_024308866.1:p.Val27185Ala
XM_024453099.1:c.63317T>C (TTN)	XP_024308867.1:p.Val21106Ala
XM_024453100.1:c.53171T>C (TTN)	XP_024308868.1:p.Val17724Ala