Canonical Allele Identifier: CA349622438

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179483508G>A (hg19) ; chr2:g.178618781G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618781G>A , CM000664.2:g.178618781G>A	GRCh38
NC_000002.11:g.179483508G>A , CM000664.1:g.179483508G>A	GRCh37
NC_000002.10:g.179191753G>A	NCBI36
NG_011618.3:g.217022C>T , LRG_391:g.217022C>T
NG_051363.1:g.100955G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39065C>T (TTN)	ENSP00000343764.6:p.Pro13022Leu
ENST00000342175.11:c.20150C>T (TTN)	ENSP00000340554.6:p.Pro6717Leu
ENST00000359218.10:c.19949C>T (TTN)	ENSP00000352154.5:p.Pro6650Leu
ENST00000342175.10:c.20150C>T (TTN)	ENSP00000340554.6:p.Pro6717Leu
ENST00000342992.10:c.39065C>T (TTN)	ENSP00000343764.6:p.Pro13022Leu
ENST00000359218.9:c.19949C>T (TTN)	ENSP00000352154.5:p.Pro6650Leu
ENST00000460472.6:c.19574C>T (TTN)	ENSP00000434586.1:p.Pro6525Leu
ENST00000589042.5:c.46769C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro15590Leu
ENST00000591111.5:c.41846C>T (TTN)	ENSP00000465570.1:p.Pro13949Leu
ENST00000615779.4:c.41846C>T (TTN)	ENSP00000483597.1:p.Pro13949Leu
NM_001256850.1:c.41846C>T (TTN)	NP_001243779.1:p.Pro13949Leu
NM_001267550.2:c.46769C>T (TTN) MANE Select	NP_001254479.2:p.Pro15590Leu
NM_003319.4:c.19574C>T (TTN)	NP_003310.4:p.Pro6525Leu
NM_133378.4:c.39065C>T (TTN)	NP_596869.4:p.Pro13022Leu
NM_133432.3:c.19949C>T (TTN)	NP_597676.3:p.Pro6650Leu
NM_133437.4:c.20150C>T (TTN)	NP_597681.4:p.Pro6717Leu
NR_038271.1:n.1605-972G>A (TTN-AS1)
XM_011511729.1:c.45866C>T (TTN)	XP_011510031.1:p.Pro15289Leu
XM_011511730.1:c.19760C>T (TTN)	XP_011510032.1:p.Pro6587Leu
XM_011511731.1:c.19619C>T (TTN)	XP_011510033.1:p.Pro6540Leu
XM_017004819.1:c.45662C>T (TTN)	XP_016860308.1:p.Pro15221Leu
XM_017004820.1:c.41060C>T (TTN)	XP_016860309.1:p.Pro13687Leu
XM_017004821.1:c.41057C>T (TTN)	XP_016860310.1:p.Pro13686Leu
XM_017004822.1:c.38099C>T (TTN)	XP_016860311.1:p.Pro12700Leu
XM_017004823.1:c.19715C>T (TTN)	XP_016860312.1:p.Pro6572Leu
XM_024453094.1:c.41210C>T (TTN)	XP_024308862.1:p.Pro13737Leu
XM_024453095.1:c.41207C>T (TTN)	XP_024308863.1:p.Pro13736Leu
XM_024453096.1:c.40640C>T (TTN)	XP_024308864.1:p.Pro13547Leu
XM_024453097.1:c.37982C>T (TTN)	XP_024308865.1:p.Pro12661Leu
XM_024453098.1:c.37901C>T (TTN)	XP_024308866.1:p.Pro12634Leu
XM_024453099.1:c.19664C>T (TTN)	XP_024308867.1:p.Pro6555Leu
XM_024453100.1:c.9518C>T (TTN)	XP_024308868.1:p.Pro3173Leu