Canonical Allele Identifier: CA349600877

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179432011A>C (hg19) ; chr2:g.178567284A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567284A>C , CM000664.2:g.178567284A>C	GRCh38
NC_000002.11:g.179432011A>C , CM000664.1:g.179432011A>C	GRCh37
NC_000002.10:g.179140257A>C	NCBI36
NG_011618.3:g.268519T>G , LRG_391:g.268519T>G
NG_051363.1:g.49458A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.71144T>G (TTN)	ENSP00000343764.6:p.Val23715Gly
ENST00000342175.11:c.52229T>G (TTN)	ENSP00000340554.6:p.Val17410Gly
ENST00000359218.10:c.52028T>G (TTN)	ENSP00000352154.5:p.Val17343Gly
ENST00000342175.10:c.52229T>G (TTN)	ENSP00000340554.6:p.Val17410Gly
ENST00000342992.10:c.71144T>G (TTN)	ENSP00000343764.6:p.Val23715Gly
ENST00000359218.9:c.52028T>G (TTN)	ENSP00000352154.5:p.Val17343Gly
ENST00000460472.6:c.51653T>G (TTN)	ENSP00000434586.1:p.Val17218Gly
ENST00000589042.5:c.78848T>G (TTN) MANE Select	ENSP00000467141.1:p.Val26283Gly
ENST00000591111.5:c.73925T>G (TTN)	ENSP00000465570.1:p.Val24642Gly
ENST00000615779.4:c.73925T>G (TTN)	ENSP00000483597.1:p.Val24642Gly
NM_001256850.1:c.73925T>G (TTN)	NP_001243779.1:p.Val24642Gly
NM_001267550.2:c.78848T>G (TTN) MANE Select	NP_001254479.2:p.Val26283Gly
NM_003319.4:c.51653T>G (TTN)	NP_003310.4:p.Val17218Gly
NM_133378.4:c.71144T>G (TTN)	NP_596869.4:p.Val23715Gly
NM_133432.3:c.52028T>G (TTN)	NP_597676.3:p.Val17343Gly
NM_133437.4:c.52229T>G (TTN)	NP_597681.4:p.Val17410Gly
NR_038271.1:n.447-4016A>C (TTN-AS1)
NR_038272.1:n.2044-15288A>C (TTN-AS1)
XM_011511729.1:c.77945T>G (TTN)	XP_011510031.1:p.Val25982Gly
XM_011511730.1:c.51839T>G (TTN)	XP_011510032.1:p.Val17280Gly
XM_011511731.1:c.51698T>G (TTN)	XP_011510033.1:p.Val17233Gly
XM_017004819.1:c.77741T>G (TTN)	XP_016860308.1:p.Val25914Gly
XM_017004820.1:c.73139T>G (TTN)	XP_016860309.1:p.Val24380Gly
XM_017004821.1:c.73136T>G (TTN)	XP_016860310.1:p.Val24379Gly
XM_017004822.1:c.70178T>G (TTN)	XP_016860311.1:p.Val23393Gly
XM_017004823.1:c.51794T>G (TTN)	XP_016860312.1:p.Val17265Gly
XM_024453094.1:c.73289T>G (TTN)	XP_024308862.1:p.Val24430Gly
XM_024453095.1:c.73286T>G (TTN)	XP_024308863.1:p.Val24429Gly
XM_024453096.1:c.72719T>G (TTN)	XP_024308864.1:p.Val24240Gly
XM_024453097.1:c.70061T>G (TTN)	XP_024308865.1:p.Val23354Gly
XM_024453098.1:c.69980T>G (TTN)	XP_024308866.1:p.Val23327Gly
XM_024453099.1:c.51743T>G (TTN)	XP_024308867.1:p.Val17248Gly
XM_024453100.1:c.41597T>G (TTN)	XP_024308868.1:p.Val13866Gly