Canonical Allele Identifier: CA60991180

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1010407
• MyVariant Identifiers: chr2:g.179432113G>C (hg19) ; chr2:g.178567386G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567386G>C , CM000664.2:g.178567386G>C	GRCh38
NC_000002.11:g.179432113G>C , CM000664.1:g.179432113G>C	GRCh37
NC_000002.10:g.179140359G>C	NCBI36
NG_011618.3:g.268417C>G , LRG_391:g.268417C>G
NG_051363.1:g.49560G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.71042C>G (TTN)	ENSP00000343764.6:p.Ala23681Gly
ENST00000342175.11:c.52127C>G (TTN)	ENSP00000340554.6:p.Ala17376Gly
ENST00000359218.10:c.51926C>G (TTN)	ENSP00000352154.5:p.Ala17309Gly
ENST00000342175.10:c.52127C>G (TTN)	ENSP00000340554.6:p.Ala17376Gly
ENST00000342992.10:c.71042C>G (TTN)	ENSP00000343764.6:p.Ala23681Gly
ENST00000359218.9:c.51926C>G (TTN)	ENSP00000352154.5:p.Ala17309Gly
ENST00000460472.6:c.51551C>G (TTN)	ENSP00000434586.1:p.Ala17184Gly
ENST00000589042.5:c.78746C>G (TTN) MANE Select	ENSP00000467141.1:p.Ala26249Gly
ENST00000591111.5:c.73823C>G (TTN)	ENSP00000465570.1:p.Ala24608Gly
ENST00000615779.4:c.73823C>G (TTN)	ENSP00000483597.1:p.Ala24608Gly
NM_001256850.1:c.73823C>G (TTN)	NP_001243779.1:p.Ala24608Gly
NM_001267550.2:c.78746C>G (TTN) MANE Select	NP_001254479.2:p.Ala26249Gly
NM_003319.4:c.51551C>G (TTN)	NP_003310.4:p.Ala17184Gly
NM_133378.4:c.71042C>G (TTN)	NP_596869.4:p.Ala23681Gly
NM_133432.3:c.51926C>G (TTN)	NP_597676.3:p.Ala17309Gly
NM_133437.4:c.52127C>G (TTN)	NP_597681.4:p.Ala17376Gly
NR_038271.1:n.447-3914G>C (TTN-AS1)
NR_038272.1:n.2044-15186G>C (TTN-AS1)
XM_011511729.1:c.77843C>G (TTN)	XP_011510031.1:p.Ala25948Gly
XM_011511730.1:c.51737C>G (TTN)	XP_011510032.1:p.Ala17246Gly
XM_011511731.1:c.51596C>G (TTN)	XP_011510033.1:p.Ala17199Gly
XM_017004819.1:c.77639C>G (TTN)	XP_016860308.1:p.Ala25880Gly
XM_017004820.1:c.73037C>G (TTN)	XP_016860309.1:p.Ala24346Gly
XM_017004821.1:c.73034C>G (TTN)	XP_016860310.1:p.Ala24345Gly
XM_017004822.1:c.70076C>G (TTN)	XP_016860311.1:p.Ala23359Gly
XM_017004823.1:c.51692C>G (TTN)	XP_016860312.1:p.Ala17231Gly
XM_024453094.1:c.73187C>G (TTN)	XP_024308862.1:p.Ala24396Gly
XM_024453095.1:c.73184C>G (TTN)	XP_024308863.1:p.Ala24395Gly
XM_024453096.1:c.72617C>G (TTN)	XP_024308864.1:p.Ala24206Gly
XM_024453097.1:c.69959C>G (TTN)	XP_024308865.1:p.Ala23320Gly
XM_024453098.1:c.69878C>G (TTN)	XP_024308866.1:p.Ala23293Gly
XM_024453099.1:c.51641C>G (TTN)	XP_024308867.1:p.Ala17214Gly
XM_024453100.1:c.41495C>G (TTN)	XP_024308868.1:p.Ala13832Gly