Canonical Allele Identifier: CA349646992

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179495893A>T (hg19) ; chr2:g.178631166A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178631166A>T , CM000664.2:g.178631166A>T	GRCh38
NC_000002.11:g.179495893A>T , CM000664.1:g.179495893A>T	GRCh37
NC_000002.10:g.179204138A>T	NCBI36
NG_011618.3:g.204637T>A , LRG_391:g.204637T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.36178T>A	ENSP00000343764.6:p.Ser12060Thr
ENST00000342175.11:c.17263T>A	ENSP00000340554.6:p.Ser5755Thr
ENST00000359218.10:c.17062T>A	ENSP00000352154.5:p.Ser5688Thr
ENST00000342175.10:c.17263T>A	ENSP00000340554.6:p.Ser5755Thr
ENST00000342992.10:c.36178T>A	ENSP00000343764.6:p.Ser12060Thr
ENST00000359218.9:c.17062T>A	ENSP00000352154.5:p.Ser5688Thr
ENST00000460472.6:c.16687T>A	ENSP00000434586.1:p.Ser5563Thr
ENST00000589042.5:c.43882T>A MANE Select	ENSP00000467141.1:p.Ser14628Thr
ENST00000591111.5:c.38959T>A	ENSP00000465570.1:p.Ser12987Thr
ENST00000615779.4:c.38959T>A	ENSP00000483597.1:p.Ser12987Thr
NM_001256850.1:c.38959T>A	NP_001243779.1:p.Ser12987Thr
NM_001267550.2:c.43882T>A MANE Select	NP_001254479.2:p.Ser14628Thr
NM_003319.4:c.16687T>A	NP_003310.4:p.Ser5563Thr
NM_133378.4:c.36178T>A	NP_596869.4:p.Ser12060Thr
NM_133432.3:c.17062T>A	NP_597676.3:p.Ser5688Thr
NM_133437.4:c.17263T>A	NP_597681.4:p.Ser5755Thr
XM_011511729.1:c.42979T>A	XP_011510031.1:p.Ser14327Thr
XM_011511730.1:c.16873T>A	XP_011510032.1:p.Ser5625Thr
XM_011511731.1:c.16732T>A	XP_011510033.1:p.Ser5578Thr
XM_017004819.1:c.42775T>A	XP_016860308.1:p.Ser14259Thr
XM_017004820.1:c.38173T>A	XP_016860309.1:p.Ser12725Thr
XM_017004821.1:c.38170T>A	XP_016860310.1:p.Ser12724Thr
XM_017004822.1:c.35212T>A	XP_016860311.1:p.Ser11738Thr
XM_017004823.1:c.16828T>A	XP_016860312.1:p.Ser5610Thr
XM_024453094.1:c.38323T>A	XP_024308862.1:p.Ser12775Thr
XM_024453095.1:c.38320T>A	XP_024308863.1:p.Ser12774Thr
XM_024453096.1:c.37753T>A	XP_024308864.1:p.Ser12585Thr
XM_024453097.1:c.35095T>A	XP_024308865.1:p.Ser11699Thr
XM_024453098.1:c.35014T>A	XP_024308866.1:p.Ser11672Thr
XM_024453099.1:c.16777T>A	XP_024308867.1:p.Ser5593Thr
XM_024453100.1:c.6631T>A	XP_024308868.1:p.Ser2211Thr