Canonical Allele Identifier: CA349479334

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179455643C>A (hg19) ; chr2:g.178590916C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178590916C>A , CM000664.2:g.178590916C>A	GRCh38
NC_000002.11:g.179455643C>A , CM000664.1:g.179455643C>A	GRCh37
NC_000002.10:g.179163889C>A	NCBI36
NG_011618.3:g.244887G>T , LRG_391:g.244887G>T
NG_051363.1:g.73090C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.53105G>T (TTN)	ENSP00000343764.6:p.Ser17702Ile
ENST00000342175.11:c.34190G>T (TTN)	ENSP00000340554.6:p.Ser11397Ile
ENST00000359218.10:c.33989G>T (TTN)	ENSP00000352154.5:p.Ser11330Ile
ENST00000342175.10:c.34190G>T (TTN)	ENSP00000340554.6:p.Ser11397Ile
ENST00000342992.10:c.53105G>T (TTN)	ENSP00000343764.6:p.Ser17702Ile
ENST00000359218.9:c.33989G>T (TTN)	ENSP00000352154.5:p.Ser11330Ile
ENST00000460472.6:c.33614G>T (TTN)	ENSP00000434586.1:p.Ser11205Ile
ENST00000589042.5:c.60809G>T (TTN) MANE Select	ENSP00000467141.1:p.Ser20270Ile
ENST00000591111.5:c.55886G>T (TTN)	ENSP00000465570.1:p.Ser18629Ile
ENST00000615779.4:c.55886G>T (TTN)	ENSP00000483597.1:p.Ser18629Ile
NM_001256850.1:c.55886G>T (TTN)	NP_001243779.1:p.Ser18629Ile
NM_001267550.2:c.60809G>T (TTN) MANE Select	NP_001254479.2:p.Ser20270Ile
NM_003319.4:c.33614G>T (TTN)	NP_003310.4:p.Ser11205Ile
NM_133378.4:c.53105G>T (TTN)	NP_596869.4:p.Ser17702Ile
NM_133432.3:c.33989G>T (TTN)	NP_597676.3:p.Ser11330Ile
NM_133437.4:c.34190G>T (TTN)	NP_597681.4:p.Ser11397Ile
NR_038271.1:n.597-6680C>A (TTN-AS1)
NR_038272.1:n.3189-223C>A (TTN-AS1)
XM_011511729.1:c.59906G>T (TTN)	XP_011510031.1:p.Ser19969Ile
XM_011511730.1:c.33800G>T (TTN)	XP_011510032.1:p.Ser11267Ile
XM_011511731.1:c.33659G>T (TTN)	XP_011510033.1:p.Ser11220Ile
XM_017004819.1:c.59702G>T (TTN)	XP_016860308.1:p.Ser19901Ile
XM_017004820.1:c.55100G>T (TTN)	XP_016860309.1:p.Ser18367Ile
XM_017004821.1:c.55097G>T (TTN)	XP_016860310.1:p.Ser18366Ile
XM_017004822.1:c.52139G>T (TTN)	XP_016860311.1:p.Ser17380Ile
XM_017004823.1:c.33755G>T (TTN)	XP_016860312.1:p.Ser11252Ile
XM_024453094.1:c.55250G>T (TTN)	XP_024308862.1:p.Ser18417Ile
XM_024453095.1:c.55247G>T (TTN)	XP_024308863.1:p.Ser18416Ile
XM_024453096.1:c.54680G>T (TTN)	XP_024308864.1:p.Ser18227Ile
XM_024453097.1:c.52022G>T (TTN)	XP_024308865.1:p.Ser17341Ile
XM_024453098.1:c.51941G>T (TTN)	XP_024308866.1:p.Ser17314Ile
XM_024453099.1:c.33704G>T (TTN)	XP_024308867.1:p.Ser11235Ile
XM_024453100.1:c.23558G>T (TTN)	XP_024308868.1:p.Ser7853Ile