Canonical Allele Identifier: CA349601309

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179432114C>G (hg19) ; chr2:g.178567387C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567387C>G , CM000664.2:g.178567387C>G	GRCh38
NC_000002.11:g.179432114C>G , CM000664.1:g.179432114C>G	GRCh37
NC_000002.10:g.179140360C>G	NCBI36
NG_011618.3:g.268416G>C , LRG_391:g.268416G>C
NG_051363.1:g.49561C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.71041G>C (TTN)	ENSP00000343764.6:p.Ala23681Pro
ENST00000342175.11:c.52126G>C (TTN)	ENSP00000340554.6:p.Ala17376Pro
ENST00000359218.10:c.51925G>C (TTN)	ENSP00000352154.5:p.Ala17309Pro
ENST00000342175.10:c.52126G>C (TTN)	ENSP00000340554.6:p.Ala17376Pro
ENST00000342992.10:c.71041G>C (TTN)	ENSP00000343764.6:p.Ala23681Pro
ENST00000359218.9:c.51925G>C (TTN)	ENSP00000352154.5:p.Ala17309Pro
ENST00000460472.6:c.51550G>C (TTN)	ENSP00000434586.1:p.Ala17184Pro
ENST00000589042.5:c.78745G>C (TTN) MANE Select	ENSP00000467141.1:p.Ala26249Pro
ENST00000591111.5:c.73822G>C (TTN)	ENSP00000465570.1:p.Ala24608Pro
ENST00000615779.4:c.73822G>C (TTN)	ENSP00000483597.1:p.Ala24608Pro
NM_001256850.1:c.73822G>C (TTN)	NP_001243779.1:p.Ala24608Pro
NM_001267550.2:c.78745G>C (TTN) MANE Select	NP_001254479.2:p.Ala26249Pro
NM_003319.4:c.51550G>C (TTN)	NP_003310.4:p.Ala17184Pro
NM_133378.4:c.71041G>C (TTN)	NP_596869.4:p.Ala23681Pro
NM_133432.3:c.51925G>C (TTN)	NP_597676.3:p.Ala17309Pro
NM_133437.4:c.52126G>C (TTN)	NP_597681.4:p.Ala17376Pro
NR_038271.1:n.447-3913C>G (TTN-AS1)
NR_038272.1:n.2044-15185C>G (TTN-AS1)
XM_011511729.1:c.77842G>C (TTN)	XP_011510031.1:p.Ala25948Pro
XM_011511730.1:c.51736G>C (TTN)	XP_011510032.1:p.Ala17246Pro
XM_011511731.1:c.51595G>C (TTN)	XP_011510033.1:p.Ala17199Pro
XM_017004819.1:c.77638G>C (TTN)	XP_016860308.1:p.Ala25880Pro
XM_017004820.1:c.73036G>C (TTN)	XP_016860309.1:p.Ala24346Pro
XM_017004821.1:c.73033G>C (TTN)	XP_016860310.1:p.Ala24345Pro
XM_017004822.1:c.70075G>C (TTN)	XP_016860311.1:p.Ala23359Pro
XM_017004823.1:c.51691G>C (TTN)	XP_016860312.1:p.Ala17231Pro
XM_024453094.1:c.73186G>C (TTN)	XP_024308862.1:p.Ala24396Pro
XM_024453095.1:c.73183G>C (TTN)	XP_024308863.1:p.Ala24395Pro
XM_024453096.1:c.72616G>C (TTN)	XP_024308864.1:p.Ala24206Pro
XM_024453097.1:c.69958G>C (TTN)	XP_024308865.1:p.Ala23320Pro
XM_024453098.1:c.69877G>C (TTN)	XP_024308866.1:p.Ala23293Pro
XM_024453099.1:c.51640G>C (TTN)	XP_024308867.1:p.Ala17214Pro
XM_024453100.1:c.41494G>C (TTN)	XP_024308868.1:p.Ala13832Pro