Canonical Allele Identifier: CA349434912

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178540079-G-A
• MyVariant Identifiers: chr2:g.179404806G>A (hg19) ; chr2:g.178540079G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178540079G>A , CM000664.2:g.178540079G>A	GRCh38
NC_000002.11:g.179404806G>A , CM000664.1:g.179404806G>A	GRCh37
NC_000002.10:g.179113052G>A	NCBI36
NG_011618.3:g.295724C>T , LRG_391:g.295724C>T
NG_051363.1:g.22253G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.90383C>T (TTN)	ENSP00000343764.6:p.Thr30128Ile
ENST00000342175.11:c.71468C>T (TTN)	ENSP00000340554.6:p.Thr23823Ile
ENST00000359218.10:c.71267C>T (TTN)	ENSP00000352154.5:p.Thr23756Ile
ENST00000342175.10:c.71468C>T (TTN)	ENSP00000340554.6:p.Thr23823Ile
ENST00000342992.10:c.90383C>T (TTN)	ENSP00000343764.6:p.Thr30128Ile
ENST00000359218.9:c.71267C>T (TTN)	ENSP00000352154.5:p.Thr23756Ile
ENST00000460472.6:c.70892C>T (TTN)	ENSP00000434586.1:p.Thr23631Ile
ENST00000589042.5:c.98087C>T (TTN) MANE Select	ENSP00000467141.1:p.Thr32696Ile
ENST00000591111.5:c.93164C>T (TTN)	ENSP00000465570.1:p.Thr31055Ile
ENST00000615779.4:c.93164C>T (TTN)	ENSP00000483597.1:p.Thr31055Ile
NM_001256850.1:c.93164C>T (TTN)	NP_001243779.1:p.Thr31055Ile
NM_001267550.2:c.98087C>T (TTN) MANE Select	NP_001254479.2:p.Thr32696Ile
NM_003319.4:c.70892C>T (TTN)	NP_003310.4:p.Thr23631Ile
NM_133378.4:c.90383C>T (TTN)	NP_596869.4:p.Thr30128Ile
NM_133432.3:c.71267C>T (TTN)	NP_597676.3:p.Thr23756Ile
NM_133437.4:c.71468C>T (TTN)	NP_597681.4:p.Thr23823Ile
NR_038271.1:n.446+16443G>A (TTN-AS1)
NR_038272.1:n.1841-28G>A (TTN-AS1)
XM_011511729.1:c.97184C>T (TTN)	XP_011510031.1:p.Thr32395Ile
XM_011511730.1:c.71078C>T (TTN)	XP_011510032.1:p.Thr23693Ile
XM_011511731.1:c.70937C>T (TTN)	XP_011510033.1:p.Thr23646Ile
XM_017004819.1:c.96980C>T (TTN)	XP_016860308.1:p.Thr32327Ile
XM_017004820.1:c.92378C>T (TTN)	XP_016860309.1:p.Thr30793Ile
XM_017004821.1:c.92375C>T (TTN)	XP_016860310.1:p.Thr30792Ile
XM_017004822.1:c.89417C>T (TTN)	XP_016860311.1:p.Thr29806Ile
XM_017004823.1:c.71033C>T (TTN)	XP_016860312.1:p.Thr23678Ile
XM_024453094.1:c.92528C>T (TTN)	XP_024308862.1:p.Thr30843Ile
XM_024453095.1:c.92525C>T (TTN)	XP_024308863.1:p.Thr30842Ile
XM_024453096.1:c.91958C>T (TTN)	XP_024308864.1:p.Thr30653Ile
XM_024453097.1:c.89300C>T (TTN)	XP_024308865.1:p.Thr29767Ile
XM_024453098.1:c.89219C>T (TTN)	XP_024308866.1:p.Thr29740Ile
XM_024453099.1:c.70982C>T (TTN)	XP_024308867.1:p.Thr23661Ile
XM_024453100.1:c.60836C>T (TTN)	XP_024308868.1:p.Thr20279Ile