Canonical Allele Identifier: CA349510916

Gene: TTN TTN-AS1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.82718T>G (TTN)	ENSP00000343764.6:p.Val27573Gly
ENST00000342175.11:c.63803T>G (TTN)	ENSP00000340554.6:p.Val21268Gly
ENST00000359218.10:c.63602T>G (TTN)	ENSP00000352154.5:p.Val21201Gly
ENST00000342175.10:c.63803T>G (TTN)	ENSP00000340554.6:p.Val21268Gly
ENST00000342992.10:c.82718T>G (TTN)	ENSP00000343764.6:p.Val27573Gly
ENST00000359218.9:c.63602T>G (TTN)	ENSP00000352154.5:p.Val21201Gly
ENST00000460472.6:c.63227T>G (TTN)	ENSP00000434586.1:p.Val21076Gly
ENST00000589042.5:c.90422T>G (TTN) MANE Select	ENSP00000467141.1:p.Val30141Gly
ENST00000591111.5:c.85499T>G (TTN)	ENSP00000465570.1:p.Val28500Gly
ENST00000615779.4:c.85499T>G (TTN)	ENSP00000483597.1:p.Val28500Gly
NM_001256850.1:c.85499T>G (TTN)	NP_001243779.1:p.Val28500Gly
NM_001267550.2:c.90422T>G (TTN) MANE Select	NP_001254479.2:p.Val30141Gly
NM_003319.4:c.63227T>G (TTN)	NP_003310.4:p.Val21076Gly
NM_133378.4:c.82718T>G (TTN)	NP_596869.4:p.Val27573Gly
NM_133432.3:c.63602T>G (TTN)	NP_597676.3:p.Val21201Gly
NM_133437.4:c.63803T>G (TTN)	NP_597681.4:p.Val21268Gly
NR_038271.1:n.447-18822A>C (TTN-AS1)
NR_038272.1:n.2043+10117A>C (TTN-AS1)
XM_011511729.1:c.89519T>G (TTN)	XP_011510031.1:p.Val29840Gly
XM_011511730.1:c.63413T>G (TTN)	XP_011510032.1:p.Val21138Gly
XM_011511731.1:c.63272T>G (TTN)	XP_011510033.1:p.Val21091Gly
XM_017004819.1:c.89315T>G (TTN)	XP_016860308.1:p.Val29772Gly
XM_017004820.1:c.84713T>G (TTN)	XP_016860309.1:p.Val28238Gly
XM_017004821.1:c.84710T>G (TTN)	XP_016860310.1:p.Val28237Gly
XM_017004822.1:c.81752T>G (TTN)	XP_016860311.1:p.Val27251Gly
XM_017004823.1:c.63368T>G (TTN)	XP_016860312.1:p.Val21123Gly
XM_024453094.1:c.84863T>G (TTN)	XP_024308862.1:p.Val28288Gly
XM_024453095.1:c.84860T>G (TTN)	XP_024308863.1:p.Val28287Gly
XM_024453096.1:c.84293T>G (TTN)	XP_024308864.1:p.Val28098Gly
XM_024453097.1:c.81635T>G (TTN)	XP_024308865.1:p.Val27212Gly
XM_024453098.1:c.81554T>G (TTN)	XP_024308866.1:p.Val27185Gly
XM_024453099.1:c.63317T>G (TTN)	XP_024308867.1:p.Val21106Gly
XM_024453100.1:c.53171T>G (TTN)	XP_024308868.1:p.Val17724Gly