Canonical Allele Identifier: CA349398233

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178527055-C-A
• MyVariant Identifiers: chr2:g.179391782C>A (hg19) ; chr2:g.178527055C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527055C>A , CM000664.2:g.178527055C>A	GRCh38
NC_000002.11:g.179391782C>A , CM000664.1:g.179391782C>A	GRCh37
NC_000002.10:g.179100028C>A	NCBI36
NG_011618.3:g.308748G>T , LRG_391:g.308748G>T
NG_051363.1:g.9229C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.100229G>T (TTN)	ENSP00000343764.6:p.Gly33410Val
ENST00000342175.11:c.81314G>T (TTN)	ENSP00000340554.6:p.Gly27105Val
ENST00000359218.10:c.81113G>T (TTN)	ENSP00000352154.5:p.Gly27038Val
ENST00000342175.10:c.81314G>T (TTN)	ENSP00000340554.6:p.Gly27105Val
ENST00000342992.10:c.100229G>T (TTN)	ENSP00000343764.6:p.Gly33410Val
ENST00000359218.9:c.81113G>T (TTN)	ENSP00000352154.5:p.Gly27038Val
ENST00000460472.6:c.80738G>T (TTN)	ENSP00000434586.1:p.Gly26913Val
ENST00000589042.5:c.107933G>T (TTN) MANE Select	ENSP00000467141.1:p.Gly35978Val
ENST00000591111.5:c.103010G>T (TTN)	ENSP00000465570.1:p.Gly34337Val
ENST00000615779.4:c.103010G>T (TTN)	ENSP00000483597.1:p.Gly34337Val
NM_001256850.1:c.103010G>T (TTN)	NP_001243779.1:p.Gly34337Val
NM_001267550.2:c.107933G>T (TTN) MANE Select	NP_001254479.2:p.Gly35978Val
NM_003319.4:c.80738G>T (TTN)	NP_003310.4:p.Gly26913Val
NM_133378.4:c.100229G>T (TTN)	NP_596869.4:p.Gly33410Val
NM_133432.3:c.81113G>T (TTN)	NP_597676.3:p.Gly27038Val
NM_133437.4:c.81314G>T (TTN)	NP_597681.4:p.Gly27105Val
NR_038271.1:n.446+3419C>A (TTN-AS1)
NR_038272.1:n.219+3419C>A (TTN-AS1)
XM_011511729.1:c.107030G>T (TTN)	XP_011510031.1:p.Gly35677Val
XM_011511730.1:c.80924G>T (TTN)	XP_011510032.1:p.Gly26975Val
XM_011511731.1:c.80783G>T (TTN)	XP_011510033.1:p.Gly26928Val
XM_017004819.1:c.106826G>T (TTN)	XP_016860308.1:p.Gly35609Val
XM_017004820.1:c.102224G>T (TTN)	XP_016860309.1:p.Gly34075Val
XM_017004821.1:c.102221G>T (TTN)	XP_016860310.1:p.Gly34074Val
XM_017004822.1:c.99263G>T (TTN)	XP_016860311.1:p.Gly33088Val
XM_017004823.1:c.80879G>T (TTN)	XP_016860312.1:p.Gly26960Val
XM_024453094.1:c.102374G>T (TTN)	XP_024308862.1:p.Gly34125Val
XM_024453095.1:c.102371G>T (TTN)	XP_024308863.1:p.Gly34124Val
XM_024453096.1:c.101804G>T (TTN)	XP_024308864.1:p.Gly33935Val
XM_024453097.1:c.99146G>T (TTN)	XP_024308865.1:p.Gly33049Val
XM_024453098.1:c.99065G>T (TTN)	XP_024308866.1:p.Gly33022Val
XM_024453099.1:c.80828G>T (TTN)	XP_024308867.1:p.Gly26943Val
XM_024453100.1:c.70682G>T (TTN)	XP_024308868.1:p.Gly23561Val