Canonical Allele Identifier: CA349483613

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179455847C>G (hg19) ; chr2:g.178591120C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591120C>G , CM000664.2:g.178591120C>G	GRCh38
NC_000002.11:g.179455847C>G , CM000664.1:g.179455847C>G	GRCh37
NC_000002.10:g.179164093C>G	NCBI36
NG_011618.3:g.244683G>C , LRG_391:g.244683G>C
NG_051363.1:g.73294C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.52901G>C (TTN)	ENSP00000343764.6:p.Ser17634Thr
ENST00000342175.11:c.33986G>C (TTN)	ENSP00000340554.6:p.Ser11329Thr
ENST00000359218.10:c.33785G>C (TTN)	ENSP00000352154.5:p.Ser11262Thr
ENST00000342175.10:c.33986G>C (TTN)	ENSP00000340554.6:p.Ser11329Thr
ENST00000342992.10:c.52901G>C (TTN)	ENSP00000343764.6:p.Ser17634Thr
ENST00000359218.9:c.33785G>C (TTN)	ENSP00000352154.5:p.Ser11262Thr
ENST00000460472.6:c.33410G>C (TTN)	ENSP00000434586.1:p.Ser11137Thr
ENST00000589042.5:c.60605G>C (TTN) MANE Select	ENSP00000467141.1:p.Ser20202Thr
ENST00000591111.5:c.55682G>C (TTN)	ENSP00000465570.1:p.Ser18561Thr
ENST00000615779.4:c.55682G>C (TTN)	ENSP00000483597.1:p.Ser18561Thr
NM_001256850.1:c.55682G>C (TTN)	NP_001243779.1:p.Ser18561Thr
NM_001267550.2:c.60605G>C (TTN) MANE Select	NP_001254479.2:p.Ser20202Thr
NM_003319.4:c.33410G>C (TTN)	NP_003310.4:p.Ser11137Thr
NM_133378.4:c.52901G>C (TTN)	NP_596869.4:p.Ser17634Thr
NM_133432.3:c.33785G>C (TTN)	NP_597676.3:p.Ser11262Thr
NM_133437.4:c.33986G>C (TTN)	NP_597681.4:p.Ser11329Thr
NR_038271.1:n.597-6476C>G (TTN-AS1)
NR_038272.1:n.3189-19C>G (TTN-AS1)
XM_011511729.1:c.59702G>C (TTN)	XP_011510031.1:p.Ser19901Thr
XM_011511730.1:c.33596G>C (TTN)	XP_011510032.1:p.Ser11199Thr
XM_011511731.1:c.33455G>C (TTN)	XP_011510033.1:p.Ser11152Thr
XM_017004819.1:c.59498G>C (TTN)	XP_016860308.1:p.Ser19833Thr
XM_017004820.1:c.54896G>C (TTN)	XP_016860309.1:p.Ser18299Thr
XM_017004821.1:c.54893G>C (TTN)	XP_016860310.1:p.Ser18298Thr
XM_017004822.1:c.51935G>C (TTN)	XP_016860311.1:p.Ser17312Thr
XM_017004823.1:c.33551G>C (TTN)	XP_016860312.1:p.Ser11184Thr
XM_024453094.1:c.55046G>C (TTN)	XP_024308862.1:p.Ser18349Thr
XM_024453095.1:c.55043G>C (TTN)	XP_024308863.1:p.Ser18348Thr
XM_024453096.1:c.54476G>C (TTN)	XP_024308864.1:p.Ser18159Thr
XM_024453097.1:c.51818G>C (TTN)	XP_024308865.1:p.Ser17273Thr
XM_024453098.1:c.51737G>C (TTN)	XP_024308866.1:p.Ser17246Thr
XM_024453099.1:c.33500G>C (TTN)	XP_024308867.1:p.Ser11167Thr
XM_024453100.1:c.23354G>C (TTN)	XP_024308868.1:p.Ser7785Thr