Canonical Allele Identifier: CA349495511

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178549764-G-A
• MyVariant Identifiers: chr2:g.179414491G>A (hg19) ; chr2:g.178549764G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549764G>A , CM000664.2:g.178549764G>A	GRCh38
NC_000002.11:g.179414491G>A , CM000664.1:g.179414491G>A	GRCh37
NC_000002.10:g.179122737G>A	NCBI36
NG_011618.3:g.286039C>T , LRG_391:g.286039C>T
NG_051363.1:g.31938G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.84254C>T (TTN)	ENSP00000343764.6:p.Thr28085Ile
ENST00000342175.11:c.65339C>T (TTN)	ENSP00000340554.6:p.Thr21780Ile
ENST00000359218.10:c.65138C>T (TTN)	ENSP00000352154.5:p.Thr21713Ile
ENST00000342175.10:c.65339C>T (TTN)	ENSP00000340554.6:p.Thr21780Ile
ENST00000342992.10:c.84254C>T (TTN)	ENSP00000343764.6:p.Thr28085Ile
ENST00000359218.9:c.65138C>T (TTN)	ENSP00000352154.5:p.Thr21713Ile
ENST00000460472.6:c.64763C>T (TTN)	ENSP00000434586.1:p.Thr21588Ile
ENST00000589042.5:c.91958C>T (TTN) MANE Select	ENSP00000467141.1:p.Thr30653Ile
ENST00000591111.5:c.87035C>T (TTN)	ENSP00000465570.1:p.Thr29012Ile
ENST00000615779.4:c.87035C>T (TTN)	ENSP00000483597.1:p.Thr29012Ile
NM_001256850.1:c.87035C>T (TTN)	NP_001243779.1:p.Thr29012Ile
NM_001267550.2:c.91958C>T (TTN) MANE Select	NP_001254479.2:p.Thr30653Ile
NM_003319.4:c.64763C>T (TTN)	NP_003310.4:p.Thr21588Ile
NM_133378.4:c.84254C>T (TTN)	NP_596869.4:p.Thr28085Ile
NM_133432.3:c.65138C>T (TTN)	NP_597676.3:p.Thr21713Ile
NM_133437.4:c.65339C>T (TTN)	NP_597681.4:p.Thr21780Ile
NR_038271.1:n.447-21536G>A (TTN-AS1)
NR_038272.1:n.2043+7403G>A (TTN-AS1)
XM_011511729.1:c.91055C>T (TTN)	XP_011510031.1:p.Thr30352Ile
XM_011511730.1:c.64949C>T (TTN)	XP_011510032.1:p.Thr21650Ile
XM_011511731.1:c.64808C>T (TTN)	XP_011510033.1:p.Thr21603Ile
XM_017004819.1:c.90851C>T (TTN)	XP_016860308.1:p.Thr30284Ile
XM_017004820.1:c.86249C>T (TTN)	XP_016860309.1:p.Thr28750Ile
XM_017004821.1:c.86246C>T (TTN)	XP_016860310.1:p.Thr28749Ile
XM_017004822.1:c.83288C>T (TTN)	XP_016860311.1:p.Thr27763Ile
XM_017004823.1:c.64904C>T (TTN)	XP_016860312.1:p.Thr21635Ile
XM_024453094.1:c.86399C>T (TTN)	XP_024308862.1:p.Thr28800Ile
XM_024453095.1:c.86396C>T (TTN)	XP_024308863.1:p.Thr28799Ile
XM_024453096.1:c.85829C>T (TTN)	XP_024308864.1:p.Thr28610Ile
XM_024453097.1:c.83171C>T (TTN)	XP_024308865.1:p.Thr27724Ile
XM_024453098.1:c.83090C>T (TTN)	XP_024308866.1:p.Thr27697Ile
XM_024453099.1:c.64853C>T (TTN)	XP_024308867.1:p.Thr21618Ile
XM_024453100.1:c.54707C>T (TTN)	XP_024308868.1:p.Thr18236Ile