Canonical Allele Identifier: CA60981484

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs879245504
• gnomAD v4: 2-178607454-G-A
• MyVariant Identifiers: chr2:g.179472181G>A (hg19) ; chr2:g.178607454G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178607454G>A , CM000664.2:g.178607454G>A	GRCh38
NC_000002.11:g.179472181G>A , CM000664.1:g.179472181G>A	GRCh37
NC_000002.10:g.179180426G>A	NCBI36
NG_011618.3:g.228349C>T , LRG_391:g.228349C>T
NG_051363.1:g.89628G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.45530C>T (TTN)	ENSP00000343764.6:p.Thr15177Ile
ENST00000342175.11:c.26615C>T (TTN)	ENSP00000340554.6:p.Thr8872Ile
ENST00000359218.10:c.26414C>T (TTN)	ENSP00000352154.5:p.Thr8805Ile
ENST00000342175.10:c.26615C>T (TTN)	ENSP00000340554.6:p.Thr8872Ile
ENST00000342992.10:c.45530C>T (TTN)	ENSP00000343764.6:p.Thr15177Ile
ENST00000359218.9:c.26414C>T (TTN)	ENSP00000352154.5:p.Thr8805Ile
ENST00000460472.6:c.26039C>T (TTN)	ENSP00000434586.1:p.Thr8680Ile
ENST00000589042.5:c.53234C>T (TTN) MANE Select	ENSP00000467141.1:p.Thr17745Ile
ENST00000591111.5:c.48311C>T (TTN)	ENSP00000465570.1:p.Thr16104Ile
ENST00000615779.4:c.48311C>T (TTN)	ENSP00000483597.1:p.Thr16104Ile
NM_001256850.1:c.48311C>T (TTN)	NP_001243779.1:p.Thr16104Ile
NM_001267550.2:c.53234C>T (TTN) MANE Select	NP_001254479.2:p.Thr17745Ile
NM_003319.4:c.26039C>T (TTN)	NP_003310.4:p.Thr8680Ile
NM_133378.4:c.45530C>T (TTN)	NP_596869.4:p.Thr15177Ile
NM_133432.3:c.26414C>T (TTN)	NP_597676.3:p.Thr8805Ile
NM_133437.4:c.26615C>T (TTN)	NP_597681.4:p.Thr8872Ile
NR_038271.1:n.683-713G>A (TTN-AS1)
XM_011511729.1:c.52331C>T (TTN)	XP_011510031.1:p.Thr17444Ile
XM_011511730.1:c.26225C>T (TTN)	XP_011510032.1:p.Thr8742Ile
XM_011511731.1:c.26084C>T (TTN)	XP_011510033.1:p.Thr8695Ile
XM_017004819.1:c.52127C>T (TTN)	XP_016860308.1:p.Thr17376Ile
XM_017004820.1:c.47525C>T (TTN)	XP_016860309.1:p.Thr15842Ile
XM_017004821.1:c.47522C>T (TTN)	XP_016860310.1:p.Thr15841Ile
XM_017004822.1:c.44564C>T (TTN)	XP_016860311.1:p.Thr14855Ile
XM_017004823.1:c.26180C>T (TTN)	XP_016860312.1:p.Thr8727Ile
XM_024453094.1:c.47675C>T (TTN)	XP_024308862.1:p.Thr15892Ile
XM_024453095.1:c.47672C>T (TTN)	XP_024308863.1:p.Thr15891Ile
XM_024453096.1:c.47105C>T (TTN)	XP_024308864.1:p.Thr15702Ile
XM_024453097.1:c.44447C>T (TTN)	XP_024308865.1:p.Thr14816Ile
XM_024453098.1:c.44366C>T (TTN)	XP_024308866.1:p.Thr14789Ile
XM_024453099.1:c.26129C>T (TTN)	XP_024308867.1:p.Thr8710Ile
XM_024453100.1:c.15983C>T (TTN)	XP_024308868.1:p.Thr5328Ile