Canonical Allele Identifier: CA430266366

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179455744C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591017C>T , CM000664.2:g.178591017C>T	GRCh38
NC_000002.11:g.179455744C>T , CM000664.1:g.179455744C>T	GRCh37
NC_000002.10:g.179163990C>T	NCBI36
NG_011618.3:g.244786G>A , LRG_391:g.244786G>A
NG_051363.1:g.73191C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.53004G>A (TTN)	ENSP00000343764.6:p.Leu17668=
ENST00000342175.11:c.34089G>A (TTN)	ENSP00000340554.6:p.Leu11363=
ENST00000359218.10:c.33888G>A (TTN)	ENSP00000352154.5:p.Leu11296=
ENST00000342175.10:c.34089G>A (TTN)	ENSP00000340554.6:p.Leu11363=
ENST00000342992.10:c.53004G>A (TTN)	ENSP00000343764.6:p.Leu17668=
ENST00000359218.9:c.33888G>A (TTN)	ENSP00000352154.5:p.Leu11296=
ENST00000460472.6:c.33513G>A (TTN)	ENSP00000434586.1:p.Leu11171=
ENST00000589042.5:c.60708G>A (TTN) MANE Select	ENSP00000467141.1:p.Leu20236=
ENST00000591111.5:c.55785G>A (TTN)	ENSP00000465570.1:p.Leu18595=
ENST00000615779.4:c.55785G>A (TTN)	ENSP00000483597.1:p.Leu18595=
NM_001256850.1:c.55785G>A (TTN)	NP_001243779.1:p.Leu18595=
NM_001267550.2:c.60708G>A (TTN) MANE Select	NP_001254479.2:p.Leu20236=
NM_003319.4:c.33513G>A (TTN)	NP_003310.4:p.Leu11171=
NM_133378.4:c.53004G>A (TTN)	NP_596869.4:p.Leu17668=
NM_133432.3:c.33888G>A (TTN)	NP_597676.3:p.Leu11296=
NM_133437.4:c.34089G>A (TTN)	NP_597681.4:p.Leu11363=
NR_038271.1:n.597-6579C>T (TTN-AS1)
NR_038272.1:n.3189-122C>T (TTN-AS1)
XM_011511729.1:c.59805G>A (TTN)	XP_011510031.1:p.Leu19935=
XM_011511730.1:c.33699G>A (TTN)	XP_011510032.1:p.Leu11233=
XM_011511731.1:c.33558G>A (TTN)	XP_011510033.1:p.Leu11186=
XM_017004819.1:c.59601G>A (TTN)	XP_016860308.1:p.Leu19867=
XM_017004820.1:c.54999G>A (TTN)	XP_016860309.1:p.Leu18333=
XM_017004821.1:c.54996G>A (TTN)	XP_016860310.1:p.Leu18332=
XM_017004822.1:c.52038G>A (TTN)	XP_016860311.1:p.Leu17346=
XM_017004823.1:c.33654G>A (TTN)	XP_016860312.1:p.Leu11218=
XM_024453094.1:c.55149G>A (TTN)	XP_024308862.1:p.Leu18383=
XM_024453095.1:c.55146G>A (TTN)	XP_024308863.1:p.Leu18382=
XM_024453096.1:c.54579G>A (TTN)	XP_024308864.1:p.Leu18193=
XM_024453097.1:c.51921G>A (TTN)	XP_024308865.1:p.Leu17307=
XM_024453098.1:c.51840G>A (TTN)	XP_024308866.1:p.Leu17280=
XM_024453099.1:c.33603G>A (TTN)	XP_024308867.1:p.Leu11201=
XM_024453100.1:c.23457G>A (TTN)	XP_024308868.1:p.Leu7819=