Canonical Allele Identifier: CA349544156

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178559749-G-T
• MyVariant Identifiers: chr2:g.179424476G>T (hg19) ; chr2:g.178559749G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178559749G>T , CM000664.2:g.178559749G>T	GRCh38
NC_000002.11:g.179424476G>T , CM000664.1:g.179424476G>T	GRCh37
NC_000002.10:g.179132722G>T	NCBI36
NG_011618.3:g.276054C>A , LRG_391:g.276054C>A
NG_051363.1:g.41923G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.78679C>A (TTN)	ENSP00000343764.6:p.Leu26227Ile
ENST00000342175.11:c.59764C>A (TTN)	ENSP00000340554.6:p.Leu19922Ile
ENST00000359218.10:c.59563C>A (TTN)	ENSP00000352154.5:p.Leu19855Ile
ENST00000342175.10:c.59764C>A (TTN)	ENSP00000340554.6:p.Leu19922Ile
ENST00000342992.10:c.78679C>A (TTN)	ENSP00000343764.6:p.Leu26227Ile
ENST00000359218.9:c.59563C>A (TTN)	ENSP00000352154.5:p.Leu19855Ile
ENST00000460472.6:c.59188C>A (TTN)	ENSP00000434586.1:p.Leu19730Ile
ENST00000589042.5:c.86383C>A (TTN) MANE Select	ENSP00000467141.1:p.Leu28795Ile
ENST00000591111.5:c.81460C>A (TTN)	ENSP00000465570.1:p.Leu27154Ile
ENST00000615779.4:c.81460C>A (TTN)	ENSP00000483597.1:p.Leu27154Ile
NM_001256850.1:c.81460C>A (TTN)	NP_001243779.1:p.Leu27154Ile
NM_001267550.2:c.86383C>A (TTN) MANE Select	NP_001254479.2:p.Leu28795Ile
NM_003319.4:c.59188C>A (TTN)	NP_003310.4:p.Leu19730Ile
NM_133378.4:c.78679C>A (TTN)	NP_596869.4:p.Leu26227Ile
NM_133432.3:c.59563C>A (TTN)	NP_597676.3:p.Leu19855Ile
NM_133437.4:c.59764C>A (TTN)	NP_597681.4:p.Leu19922Ile
NR_038271.1:n.447-11551G>T (TTN-AS1)
NR_038272.1:n.2043+17388G>T (TTN-AS1)
XM_011511729.1:c.85480C>A (TTN)	XP_011510031.1:p.Leu28494Ile
XM_011511730.1:c.59374C>A (TTN)	XP_011510032.1:p.Leu19792Ile
XM_011511731.1:c.59233C>A (TTN)	XP_011510033.1:p.Leu19745Ile
XM_017004819.1:c.85276C>A (TTN)	XP_016860308.1:p.Leu28426Ile
XM_017004820.1:c.80674C>A (TTN)	XP_016860309.1:p.Leu26892Ile
XM_017004821.1:c.80671C>A (TTN)	XP_016860310.1:p.Leu26891Ile
XM_017004822.1:c.77713C>A (TTN)	XP_016860311.1:p.Leu25905Ile
XM_017004823.1:c.59329C>A (TTN)	XP_016860312.1:p.Leu19777Ile
XM_024453094.1:c.80824C>A (TTN)	XP_024308862.1:p.Leu26942Ile
XM_024453095.1:c.80821C>A (TTN)	XP_024308863.1:p.Leu26941Ile
XM_024453096.1:c.80254C>A (TTN)	XP_024308864.1:p.Leu26752Ile
XM_024453097.1:c.77596C>A (TTN)	XP_024308865.1:p.Leu25866Ile
XM_024453098.1:c.77515C>A (TTN)	XP_024308866.1:p.Leu25839Ile
XM_024453099.1:c.59278C>A (TTN)	XP_024308867.1:p.Leu19760Ile
XM_024453100.1:c.49132C>A (TTN)	XP_024308868.1:p.Leu16378Ile