Canonical Allele Identifier: CA349503359

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178551743-G-C
• MyVariant Identifiers: chr2:g.179416470G>C (hg19) ; chr2:g.178551743G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551743G>C , CM000664.2:g.178551743G>C	GRCh38
NC_000002.11:g.179416470G>C , CM000664.1:g.179416470G>C	GRCh37
NC_000002.10:g.179124716G>C	NCBI36
NG_011618.3:g.284060C>G , LRG_391:g.284060C>G
NG_051363.1:g.33917G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.83453C>G (TTN)	ENSP00000343764.6:p.Ala27818Gly
ENST00000342175.11:c.64538C>G (TTN)	ENSP00000340554.6:p.Ala21513Gly
ENST00000359218.10:c.64337C>G (TTN)	ENSP00000352154.5:p.Ala21446Gly
ENST00000342175.10:c.64538C>G (TTN)	ENSP00000340554.6:p.Ala21513Gly
ENST00000342992.10:c.83453C>G (TTN)	ENSP00000343764.6:p.Ala27818Gly
ENST00000359218.9:c.64337C>G (TTN)	ENSP00000352154.5:p.Ala21446Gly
ENST00000460472.6:c.63962C>G (TTN)	ENSP00000434586.1:p.Ala21321Gly
ENST00000589042.5:c.91157C>G (TTN) MANE Select	ENSP00000467141.1:p.Ala30386Gly
ENST00000591111.5:c.86234C>G (TTN)	ENSP00000465570.1:p.Ala28745Gly
ENST00000615779.4:c.86234C>G (TTN)	ENSP00000483597.1:p.Ala28745Gly
NM_001256850.1:c.86234C>G (TTN)	NP_001243779.1:p.Ala28745Gly
NM_001267550.2:c.91157C>G (TTN) MANE Select	NP_001254479.2:p.Ala30386Gly
NM_003319.4:c.63962C>G (TTN)	NP_003310.4:p.Ala21321Gly
NM_133378.4:c.83453C>G (TTN)	NP_596869.4:p.Ala27818Gly
NM_133432.3:c.64337C>G (TTN)	NP_597676.3:p.Ala21446Gly
NM_133437.4:c.64538C>G (TTN)	NP_597681.4:p.Ala21513Gly
NR_038271.1:n.447-19557G>C (TTN-AS1)
NR_038272.1:n.2043+9382G>C (TTN-AS1)
XM_011511729.1:c.90254C>G (TTN)	XP_011510031.1:p.Ala30085Gly
XM_011511730.1:c.64148C>G (TTN)	XP_011510032.1:p.Ala21383Gly
XM_011511731.1:c.64007C>G (TTN)	XP_011510033.1:p.Ala21336Gly
XM_017004819.1:c.90050C>G (TTN)	XP_016860308.1:p.Ala30017Gly
XM_017004820.1:c.85448C>G (TTN)	XP_016860309.1:p.Ala28483Gly
XM_017004821.1:c.85445C>G (TTN)	XP_016860310.1:p.Ala28482Gly
XM_017004822.1:c.82487C>G (TTN)	XP_016860311.1:p.Ala27496Gly
XM_017004823.1:c.64103C>G (TTN)	XP_016860312.1:p.Ala21368Gly
XM_024453094.1:c.85598C>G (TTN)	XP_024308862.1:p.Ala28533Gly
XM_024453095.1:c.85595C>G (TTN)	XP_024308863.1:p.Ala28532Gly
XM_024453096.1:c.85028C>G (TTN)	XP_024308864.1:p.Ala28343Gly
XM_024453097.1:c.82370C>G (TTN)	XP_024308865.1:p.Ala27457Gly
XM_024453098.1:c.82289C>G (TTN)	XP_024308866.1:p.Ala27430Gly
XM_024453099.1:c.64052C>G (TTN)	XP_024308867.1:p.Ala21351Gly
XM_024453100.1:c.53906C>G (TTN)	XP_024308868.1:p.Ala17969Gly