Canonical Allele Identifier: CA430093926

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1657173
• ClinVar RCV Id: RCV002169195
• dbSNP Id: rs1445321656
• MyVariant Identifiers: chr2:g.179394793G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530066G>A , CM000664.2:g.178530066G>A	GRCh38
NC_000002.11:g.179394793G>A , CM000664.1:g.179394793G>A	GRCh37
NC_000002.10:g.179103039G>A	NCBI36
NG_011618.3:g.305737C>T , LRG_391:g.305737C>T
NG_051363.1:g.12240G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98721C>T (TTN)	ENSP00000343764.6:p.Phe32907=
ENST00000342175.11:c.79806C>T (TTN)	ENSP00000340554.6:p.Phe26602=
ENST00000359218.10:c.79605C>T (TTN)	ENSP00000352154.5:p.Phe26535=
ENST00000342175.10:c.79806C>T (TTN)	ENSP00000340554.6:p.Phe26602=
ENST00000342992.10:c.98721C>T (TTN)	ENSP00000343764.6:p.Phe32907=
ENST00000359218.9:c.79605C>T (TTN)	ENSP00000352154.5:p.Phe26535=
ENST00000460472.6:c.79230C>T (TTN)	ENSP00000434586.1:p.Phe26410=
ENST00000589042.5:c.106425C>T (TTN) MANE Select	ENSP00000467141.1:p.Phe35475=
ENST00000591111.5:c.101502C>T (TTN)	ENSP00000465570.1:p.Phe33834=
ENST00000615779.4:c.101502C>T (TTN)	ENSP00000483597.1:p.Phe33834=
NM_001256850.1:c.101502C>T (TTN)	NP_001243779.1:p.Phe33834=
NM_001267550.2:c.106425C>T (TTN) MANE Select	NP_001254479.2:p.Phe35475=
NM_003319.4:c.79230C>T (TTN)	NP_003310.4:p.Phe26410=
NM_133378.4:c.98721C>T (TTN)	NP_596869.4:p.Phe32907=
NM_133432.3:c.79605C>T (TTN)	NP_597676.3:p.Phe26535=
NM_133437.4:c.79806C>T (TTN)	NP_597681.4:p.Phe26602=
NR_038271.1:n.446+6430G>A (TTN-AS1)
NR_038272.1:n.220-5666G>A (TTN-AS1)
XM_011511729.1:c.105522C>T (TTN)	XP_011510031.1:p.Phe35174=
XM_011511730.1:c.79416C>T (TTN)	XP_011510032.1:p.Phe26472=
XM_011511731.1:c.79275C>T (TTN)	XP_011510033.1:p.Phe26425=
XM_017004819.1:c.105318C>T (TTN)	XP_016860308.1:p.Phe35106=
XM_017004820.1:c.100716C>T (TTN)	XP_016860309.1:p.Phe33572=
XM_017004821.1:c.100713C>T (TTN)	XP_016860310.1:p.Phe33571=
XM_017004822.1:c.97755C>T (TTN)	XP_016860311.1:p.Phe32585=
XM_017004823.1:c.79371C>T (TTN)	XP_016860312.1:p.Phe26457=
XM_024453094.1:c.100866C>T (TTN)	XP_024308862.1:p.Phe33622=
XM_024453095.1:c.100863C>T (TTN)	XP_024308863.1:p.Phe33621=
XM_024453096.1:c.100296C>T (TTN)	XP_024308864.1:p.Phe33432=
XM_024453097.1:c.97638C>T (TTN)	XP_024308865.1:p.Phe32546=
XM_024453098.1:c.97557C>T (TTN)	XP_024308866.1:p.Phe32519=
XM_024453099.1:c.79320C>T (TTN)	XP_024308867.1:p.Phe26440=
XM_024453100.1:c.69174C>T (TTN)	XP_024308868.1:p.Phe23058=