Canonical Allele Identifier: CA349629213

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1559397320
• MyVariant Identifiers: chr2:g.179435789T>A (hg19) ; chr2:g.178571062T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178571062T>A , CM000664.2:g.178571062T>A	GRCh38
NC_000002.11:g.179435789T>A , CM000664.1:g.179435789T>A	GRCh37
NC_000002.10:g.179144035T>A	NCBI36
NG_011618.3:g.264741A>T , LRG_391:g.264741A>T
NG_051363.1:g.53236T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.67366A>T (TTN)	ENSP00000343764.6:p.Thr22456Ser
ENST00000342175.11:c.48451A>T (TTN)	ENSP00000340554.6:p.Thr16151Ser
ENST00000359218.10:c.48250A>T (TTN)	ENSP00000352154.5:p.Thr16084Ser
ENST00000342175.10:c.48451A>T (TTN)	ENSP00000340554.6:p.Thr16151Ser
ENST00000342992.10:c.67366A>T (TTN)	ENSP00000343764.6:p.Thr22456Ser
ENST00000359218.9:c.48250A>T (TTN)	ENSP00000352154.5:p.Thr16084Ser
ENST00000460472.6:c.47875A>T (TTN)	ENSP00000434586.1:p.Thr15959Ser
ENST00000589042.5:c.75070A>T (TTN) MANE Select	ENSP00000467141.1:p.Thr25024Ser
ENST00000591111.5:c.70147A>T (TTN)	ENSP00000465570.1:p.Thr23383Ser
ENST00000615779.4:c.70147A>T (TTN)	ENSP00000483597.1:p.Thr23383Ser
NM_001256850.1:c.70147A>T (TTN)	NP_001243779.1:p.Thr23383Ser
NM_001267550.2:c.75070A>T (TTN) MANE Select	NP_001254479.2:p.Thr25024Ser
NM_003319.4:c.47875A>T (TTN)	NP_003310.4:p.Thr15959Ser
NM_133378.4:c.67366A>T (TTN)	NP_596869.4:p.Thr22456Ser
NM_133432.3:c.48250A>T (TTN)	NP_597676.3:p.Thr16084Ser
NM_133437.4:c.48451A>T (TTN)	NP_597681.4:p.Thr16151Ser
NR_038271.1:n.447-238T>A (TTN-AS1)
NR_038272.1:n.2044-11510T>A (TTN-AS1)
XM_011511729.1:c.74167A>T (TTN)	XP_011510031.1:p.Thr24723Ser
XM_011511730.1:c.48061A>T (TTN)	XP_011510032.1:p.Thr16021Ser
XM_011511731.1:c.47920A>T (TTN)	XP_011510033.1:p.Thr15974Ser
XM_017004819.1:c.73963A>T (TTN)	XP_016860308.1:p.Thr24655Ser
XM_017004820.1:c.69361A>T (TTN)	XP_016860309.1:p.Thr23121Ser
XM_017004821.1:c.69358A>T (TTN)	XP_016860310.1:p.Thr23120Ser
XM_017004822.1:c.66400A>T (TTN)	XP_016860311.1:p.Thr22134Ser
XM_017004823.1:c.48016A>T (TTN)	XP_016860312.1:p.Thr16006Ser
XM_024453094.1:c.69511A>T (TTN)	XP_024308862.1:p.Thr23171Ser
XM_024453095.1:c.69508A>T (TTN)	XP_024308863.1:p.Thr23170Ser
XM_024453096.1:c.68941A>T (TTN)	XP_024308864.1:p.Thr22981Ser
XM_024453097.1:c.66283A>T (TTN)	XP_024308865.1:p.Thr22095Ser
XM_024453098.1:c.66202A>T (TTN)	XP_024308866.1:p.Thr22068Ser
XM_024453099.1:c.47965A>T (TTN)	XP_024308867.1:p.Thr15989Ser
XM_024453100.1:c.37819A>T (TTN)	XP_024308868.1:p.Thr12607Ser