Canonical Allele Identifier: CA349511659

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179417287G>C (hg19) ; chr2:g.178552560G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552560G>C , CM000664.2:g.178552560G>C	GRCh38
NC_000002.11:g.179417287G>C , CM000664.1:g.179417287G>C	GRCh37
NC_000002.10:g.179125533G>C	NCBI36
NG_011618.3:g.283243C>G , LRG_391:g.283243C>G
NG_051363.1:g.34734G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.82636C>G (TTN)	ENSP00000343764.6:p.Pro27546Ala
ENST00000342175.11:c.63721C>G (TTN)	ENSP00000340554.6:p.Pro21241Ala
ENST00000359218.10:c.63520C>G (TTN)	ENSP00000352154.5:p.Pro21174Ala
ENST00000342175.10:c.63721C>G (TTN)	ENSP00000340554.6:p.Pro21241Ala
ENST00000342992.10:c.82636C>G (TTN)	ENSP00000343764.6:p.Pro27546Ala
ENST00000359218.9:c.63520C>G (TTN)	ENSP00000352154.5:p.Pro21174Ala
ENST00000460472.6:c.63145C>G (TTN)	ENSP00000434586.1:p.Pro21049Ala
ENST00000589042.5:c.90340C>G (TTN) MANE Select	ENSP00000467141.1:p.Pro30114Ala
ENST00000591111.5:c.85417C>G (TTN)	ENSP00000465570.1:p.Pro28473Ala
ENST00000615779.4:c.85417C>G (TTN)	ENSP00000483597.1:p.Pro28473Ala
NM_001256850.1:c.85417C>G (TTN)	NP_001243779.1:p.Pro28473Ala
NM_001267550.2:c.90340C>G (TTN) MANE Select	NP_001254479.2:p.Pro30114Ala
NM_003319.4:c.63145C>G (TTN)	NP_003310.4:p.Pro21049Ala
NM_133378.4:c.82636C>G (TTN)	NP_596869.4:p.Pro27546Ala
NM_133432.3:c.63520C>G (TTN)	NP_597676.3:p.Pro21174Ala
NM_133437.4:c.63721C>G (TTN)	NP_597681.4:p.Pro21241Ala
NR_038271.1:n.447-18740G>C (TTN-AS1)
NR_038272.1:n.2043+10199G>C (TTN-AS1)
XM_011511729.1:c.89437C>G (TTN)	XP_011510031.1:p.Pro29813Ala
XM_011511730.1:c.63331C>G (TTN)	XP_011510032.1:p.Pro21111Ala
XM_011511731.1:c.63190C>G (TTN)	XP_011510033.1:p.Pro21064Ala
XM_017004819.1:c.89233C>G (TTN)	XP_016860308.1:p.Pro29745Ala
XM_017004820.1:c.84631C>G (TTN)	XP_016860309.1:p.Pro28211Ala
XM_017004821.1:c.84628C>G (TTN)	XP_016860310.1:p.Pro28210Ala
XM_017004822.1:c.81670C>G (TTN)	XP_016860311.1:p.Pro27224Ala
XM_017004823.1:c.63286C>G (TTN)	XP_016860312.1:p.Pro21096Ala
XM_024453094.1:c.84781C>G (TTN)	XP_024308862.1:p.Pro28261Ala
XM_024453095.1:c.84778C>G (TTN)	XP_024308863.1:p.Pro28260Ala
XM_024453096.1:c.84211C>G (TTN)	XP_024308864.1:p.Pro28071Ala
XM_024453097.1:c.81553C>G (TTN)	XP_024308865.1:p.Pro27185Ala
XM_024453098.1:c.81472C>G (TTN)	XP_024308866.1:p.Pro27158Ala
XM_024453099.1:c.63235C>G (TTN)	XP_024308867.1:p.Pro21079Ala
XM_024453100.1:c.53089C>G (TTN)	XP_024308868.1:p.Pro17697Ala