Canonical Allele Identifier: CA349511395

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 451748
• ClinVar RCV Id: RCV000522951 ; RCV001778991 ; RCV003237349 ; RCV003766961
• dbSNP Id: rs1553539995
• COSMIC: COSM1010674 ; COSM1010676 ; COSM1010677 ; COSM1591189
• MyVariant Identifiers: chr2:g.179417257C>A (hg19) ; chr2:g.178552530C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552530C>A , CM000664.2:g.178552530C>A	GRCh38
NC_000002.11:g.179417257C>A , CM000664.1:g.179417257C>A	GRCh37
NC_000002.10:g.179125503C>A	NCBI36
NG_011618.3:g.283273G>T , LRG_391:g.283273G>T
NG_051363.1:g.34704C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.82666G>T (TTN)	ENSP00000343764.6:p.Glu27556Ter
ENST00000342175.11:c.63751G>T (TTN)	ENSP00000340554.6:p.Glu21251Ter
ENST00000359218.10:c.63550G>T (TTN)	ENSP00000352154.5:p.Glu21184Ter
ENST00000342175.10:c.63751G>T (TTN)	ENSP00000340554.6:p.Glu21251Ter
ENST00000342992.10:c.82666G>T (TTN)	ENSP00000343764.6:p.Glu27556Ter
ENST00000359218.9:c.63550G>T (TTN)	ENSP00000352154.5:p.Glu21184Ter
ENST00000460472.6:c.63175G>T (TTN)	ENSP00000434586.1:p.Glu21059Ter
ENST00000589042.5:c.90370G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu30124Ter
ENST00000591111.5:c.85447G>T (TTN)	ENSP00000465570.1:p.Glu28483Ter
ENST00000615779.4:c.85447G>T (TTN)	ENSP00000483597.1:p.Glu28483Ter
NM_001256850.1:c.85447G>T (TTN)	NP_001243779.1:p.Glu28483Ter
NM_001267550.2:c.90370G>T (TTN) MANE Select	NP_001254479.2:p.Glu30124Ter
NM_003319.4:c.63175G>T (TTN)	NP_003310.4:p.Glu21059Ter
NM_133378.4:c.82666G>T (TTN)	NP_596869.4:p.Glu27556Ter
NM_133432.3:c.63550G>T (TTN)	NP_597676.3:p.Glu21184Ter
NM_133437.4:c.63751G>T (TTN)	NP_597681.4:p.Glu21251Ter
NR_038271.1:n.447-18770C>A (TTN-AS1)
NR_038272.1:n.2043+10169C>A (TTN-AS1)
XM_011511729.1:c.89467G>T (TTN)	XP_011510031.1:p.Glu29823Ter
XM_011511730.1:c.63361G>T (TTN)	XP_011510032.1:p.Glu21121Ter
XM_011511731.1:c.63220G>T (TTN)	XP_011510033.1:p.Glu21074Ter
XM_017004819.1:c.89263G>T (TTN)	XP_016860308.1:p.Glu29755Ter
XM_017004820.1:c.84661G>T (TTN)	XP_016860309.1:p.Glu28221Ter
XM_017004821.1:c.84658G>T (TTN)	XP_016860310.1:p.Glu28220Ter
XM_017004822.1:c.81700G>T (TTN)	XP_016860311.1:p.Glu27234Ter
XM_017004823.1:c.63316G>T (TTN)	XP_016860312.1:p.Glu21106Ter
XM_024453094.1:c.84811G>T (TTN)	XP_024308862.1:p.Glu28271Ter
XM_024453095.1:c.84808G>T (TTN)	XP_024308863.1:p.Glu28270Ter
XM_024453096.1:c.84241G>T (TTN)	XP_024308864.1:p.Glu28081Ter
XM_024453097.1:c.81583G>T (TTN)	XP_024308865.1:p.Glu27195Ter
XM_024453098.1:c.81502G>T (TTN)	XP_024308866.1:p.Glu27168Ter
XM_024453099.1:c.63265G>T (TTN)	XP_024308867.1:p.Glu21089Ter
XM_024453100.1:c.53119G>T (TTN)	XP_024308868.1:p.Glu17707Ter