Canonical Allele Identifier: CA349672190

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179442730C>T (hg19) ; chr2:g.178578003C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178578003C>T , CM000664.2:g.178578003C>T	GRCh38
NC_000002.11:g.179442730C>T , CM000664.1:g.179442730C>T	GRCh37
NC_000002.10:g.179150976C>T	NCBI36
NG_011618.3:g.257800G>A , LRG_391:g.257800G>A
NG_051363.1:g.60177C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.60808G>A (TTN)	ENSP00000343764.6:p.Ala20270Thr
ENST00000342175.11:c.41893G>A (TTN)	ENSP00000340554.6:p.Ala13965Thr
ENST00000359218.10:c.41692G>A (TTN)	ENSP00000352154.5:p.Ala13898Thr
ENST00000342175.10:c.41893G>A (TTN)	ENSP00000340554.6:p.Ala13965Thr
ENST00000342992.10:c.60808G>A (TTN)	ENSP00000343764.6:p.Ala20270Thr
ENST00000359218.9:c.41692G>A (TTN)	ENSP00000352154.5:p.Ala13898Thr
ENST00000460472.6:c.41317G>A (TTN)	ENSP00000434586.1:p.Ala13773Thr
ENST00000589042.5:c.68512G>A (TTN) MANE Select	ENSP00000467141.1:p.Ala22838Thr
ENST00000591111.5:c.63589G>A (TTN)	ENSP00000465570.1:p.Ala21197Thr
ENST00000615779.4:c.63589G>A (TTN)	ENSP00000483597.1:p.Ala21197Thr
NM_001256850.1:c.63589G>A (TTN)	NP_001243779.1:p.Ala21197Thr
NM_001267550.2:c.68512G>A (TTN) MANE Select	NP_001254479.2:p.Ala22838Thr
NM_003319.4:c.41317G>A (TTN)	NP_003310.4:p.Ala13773Thr
NM_133378.4:c.60808G>A (TTN)	NP_596869.4:p.Ala20270Thr
NM_133432.3:c.41692G>A (TTN)	NP_597676.3:p.Ala13898Thr
NM_133437.4:c.41893G>A (TTN)	NP_597681.4:p.Ala13965Thr
NR_038271.1:n.596+6554C>T (TTN-AS1)
NR_038272.1:n.2044-4569C>T (TTN-AS1)
XM_011511729.1:c.67609G>A (TTN)	XP_011510031.1:p.Ala22537Thr
XM_011511730.1:c.41503G>A (TTN)	XP_011510032.1:p.Ala13835Thr
XM_011511731.1:c.41362G>A (TTN)	XP_011510033.1:p.Ala13788Thr
XM_017004819.1:c.67405G>A (TTN)	XP_016860308.1:p.Ala22469Thr
XM_017004820.1:c.62803G>A (TTN)	XP_016860309.1:p.Ala20935Thr
XM_017004821.1:c.62800G>A (TTN)	XP_016860310.1:p.Ala20934Thr
XM_017004822.1:c.59842G>A (TTN)	XP_016860311.1:p.Ala19948Thr
XM_017004823.1:c.41458G>A (TTN)	XP_016860312.1:p.Ala13820Thr
XM_024453094.1:c.62953G>A (TTN)	XP_024308862.1:p.Ala20985Thr
XM_024453095.1:c.62950G>A (TTN)	XP_024308863.1:p.Ala20984Thr
XM_024453096.1:c.62383G>A (TTN)	XP_024308864.1:p.Ala20795Thr
XM_024453097.1:c.59725G>A (TTN)	XP_024308865.1:p.Ala19909Thr
XM_024453098.1:c.59644G>A (TTN)	XP_024308866.1:p.Ala19882Thr
XM_024453099.1:c.41407G>A (TTN)	XP_024308867.1:p.Ala13803Thr
XM_024453100.1:c.31261G>A (TTN)	XP_024308868.1:p.Ala10421Thr