Canonical Allele Identifier: CA349405507

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1688391632
• MyVariant Identifiers: chr2:g.179394816G>T (hg19) ; chr2:g.178530089G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530089G>T , CM000664.2:g.178530089G>T	GRCh38
NC_000002.11:g.179394816G>T , CM000664.1:g.179394816G>T	GRCh37
NC_000002.10:g.179103062G>T	NCBI36
NG_011618.3:g.305714C>A , LRG_391:g.305714C>A
NG_051363.1:g.12263G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98698C>A (TTN)	ENSP00000343764.6:p.Leu32900Ile
ENST00000342175.11:c.79783C>A (TTN)	ENSP00000340554.6:p.Leu26595Ile
ENST00000359218.10:c.79582C>A (TTN)	ENSP00000352154.5:p.Leu26528Ile
ENST00000342175.10:c.79783C>A (TTN)	ENSP00000340554.6:p.Leu26595Ile
ENST00000342992.10:c.98698C>A (TTN)	ENSP00000343764.6:p.Leu32900Ile
ENST00000359218.9:c.79582C>A (TTN)	ENSP00000352154.5:p.Leu26528Ile
ENST00000460472.6:c.79207C>A (TTN)	ENSP00000434586.1:p.Leu26403Ile
ENST00000589042.5:c.106402C>A (TTN) MANE Select	ENSP00000467141.1:p.Leu35468Ile
ENST00000591111.5:c.101479C>A (TTN)	ENSP00000465570.1:p.Leu33827Ile
ENST00000615779.4:c.101479C>A (TTN)	ENSP00000483597.1:p.Leu33827Ile
NM_001256850.1:c.101479C>A (TTN)	NP_001243779.1:p.Leu33827Ile
NM_001267550.2:c.106402C>A (TTN) MANE Select	NP_001254479.2:p.Leu35468Ile
NM_003319.4:c.79207C>A (TTN)	NP_003310.4:p.Leu26403Ile
NM_133378.4:c.98698C>A (TTN)	NP_596869.4:p.Leu32900Ile
NM_133432.3:c.79582C>A (TTN)	NP_597676.3:p.Leu26528Ile
NM_133437.4:c.79783C>A (TTN)	NP_597681.4:p.Leu26595Ile
NR_038271.1:n.446+6453G>T (TTN-AS1)
NR_038272.1:n.220-5643G>T (TTN-AS1)
XM_011511729.1:c.105499C>A (TTN)	XP_011510031.1:p.Leu35167Ile
XM_011511730.1:c.79393C>A (TTN)	XP_011510032.1:p.Leu26465Ile
XM_011511731.1:c.79252C>A (TTN)	XP_011510033.1:p.Leu26418Ile
XM_017004819.1:c.105295C>A (TTN)	XP_016860308.1:p.Leu35099Ile
XM_017004820.1:c.100693C>A (TTN)	XP_016860309.1:p.Leu33565Ile
XM_017004821.1:c.100690C>A (TTN)	XP_016860310.1:p.Leu33564Ile
XM_017004822.1:c.97732C>A (TTN)	XP_016860311.1:p.Leu32578Ile
XM_017004823.1:c.79348C>A (TTN)	XP_016860312.1:p.Leu26450Ile
XM_024453094.1:c.100843C>A (TTN)	XP_024308862.1:p.Leu33615Ile
XM_024453095.1:c.100840C>A (TTN)	XP_024308863.1:p.Leu33614Ile
XM_024453096.1:c.100273C>A (TTN)	XP_024308864.1:p.Leu33425Ile
XM_024453097.1:c.97615C>A (TTN)	XP_024308865.1:p.Leu32539Ile
XM_024453098.1:c.97534C>A (TTN)	XP_024308866.1:p.Leu32512Ile
XM_024453099.1:c.79297C>A (TTN)	XP_024308867.1:p.Leu26433Ile
XM_024453100.1:c.69151C>A (TTN)	XP_024308868.1:p.Leu23051Ile