Canonical Allele Identifier: CA349611872

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178568920-G-T
• MyVariant Identifiers: chr2:g.179433647G>T (hg19) ; chr2:g.178568920G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568920G>T , CM000664.2:g.178568920G>T	GRCh38
NC_000002.11:g.179433647G>T , CM000664.1:g.179433647G>T	GRCh37
NC_000002.10:g.179141893G>T	NCBI36
NG_011618.3:g.266883C>A , LRG_391:g.266883C>A
NG_051363.1:g.51094G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69508C>A (TTN)	ENSP00000343764.6:p.Gln23170Lys
ENST00000342175.11:c.50593C>A (TTN)	ENSP00000340554.6:p.Gln16865Lys
ENST00000359218.10:c.50392C>A (TTN)	ENSP00000352154.5:p.Gln16798Lys
ENST00000342175.10:c.50593C>A (TTN)	ENSP00000340554.6:p.Gln16865Lys
ENST00000342992.10:c.69508C>A (TTN)	ENSP00000343764.6:p.Gln23170Lys
ENST00000359218.9:c.50392C>A (TTN)	ENSP00000352154.5:p.Gln16798Lys
ENST00000460472.6:c.50017C>A (TTN)	ENSP00000434586.1:p.Gln16673Lys
ENST00000589042.5:c.77212C>A (TTN) MANE Select	ENSP00000467141.1:p.Gln25738Lys
ENST00000591111.5:c.72289C>A (TTN)	ENSP00000465570.1:p.Gln24097Lys
ENST00000615779.4:c.72289C>A (TTN)	ENSP00000483597.1:p.Gln24097Lys
NM_001256850.1:c.72289C>A (TTN)	NP_001243779.1:p.Gln24097Lys
NM_001267550.2:c.77212C>A (TTN) MANE Select	NP_001254479.2:p.Gln25738Lys
NM_003319.4:c.50017C>A (TTN)	NP_003310.4:p.Gln16673Lys
NM_133378.4:c.69508C>A (TTN)	NP_596869.4:p.Gln23170Lys
NM_133432.3:c.50392C>A (TTN)	NP_597676.3:p.Gln16798Lys
NM_133437.4:c.50593C>A (TTN)	NP_597681.4:p.Gln16865Lys
NR_038271.1:n.447-2380G>T (TTN-AS1)
NR_038272.1:n.2044-13652G>T (TTN-AS1)
XM_011511729.1:c.76309C>A (TTN)	XP_011510031.1:p.Gln25437Lys
XM_011511730.1:c.50203C>A (TTN)	XP_011510032.1:p.Gln16735Lys
XM_011511731.1:c.50062C>A (TTN)	XP_011510033.1:p.Gln16688Lys
XM_017004819.1:c.76105C>A (TTN)	XP_016860308.1:p.Gln25369Lys
XM_017004820.1:c.71503C>A (TTN)	XP_016860309.1:p.Gln23835Lys
XM_017004821.1:c.71500C>A (TTN)	XP_016860310.1:p.Gln23834Lys
XM_017004822.1:c.68542C>A (TTN)	XP_016860311.1:p.Gln22848Lys
XM_017004823.1:c.50158C>A (TTN)	XP_016860312.1:p.Gln16720Lys
XM_024453094.1:c.71653C>A (TTN)	XP_024308862.1:p.Gln23885Lys
XM_024453095.1:c.71650C>A (TTN)	XP_024308863.1:p.Gln23884Lys
XM_024453096.1:c.71083C>A (TTN)	XP_024308864.1:p.Gln23695Lys
XM_024453097.1:c.68425C>A (TTN)	XP_024308865.1:p.Gln22809Lys
XM_024453098.1:c.68344C>A (TTN)	XP_024308866.1:p.Gln22782Lys
XM_024453099.1:c.50107C>A (TTN)	XP_024308867.1:p.Gln16703Lys
XM_024453100.1:c.39961C>A (TTN)	XP_024308868.1:p.Gln13321Lys