Canonical Allele Identifier: CA349624863

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179435374C>A (hg19) ; chr2:g.178570647C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570647C>A , CM000664.2:g.178570647C>A	GRCh38
NC_000002.11:g.179435374C>A , CM000664.1:g.179435374C>A	GRCh37
NC_000002.10:g.179143620C>A	NCBI36
NG_011618.3:g.265156G>T , LRG_391:g.265156G>T
NG_051363.1:g.52821C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.67781G>T (TTN)	ENSP00000343764.6:p.Ser22594Ile
ENST00000342175.11:c.48866G>T (TTN)	ENSP00000340554.6:p.Ser16289Ile
ENST00000359218.10:c.48665G>T (TTN)	ENSP00000352154.5:p.Ser16222Ile
ENST00000342175.10:c.48866G>T (TTN)	ENSP00000340554.6:p.Ser16289Ile
ENST00000342992.10:c.67781G>T (TTN)	ENSP00000343764.6:p.Ser22594Ile
ENST00000359218.9:c.48665G>T (TTN)	ENSP00000352154.5:p.Ser16222Ile
ENST00000460472.6:c.48290G>T (TTN)	ENSP00000434586.1:p.Ser16097Ile
ENST00000589042.5:c.75485G>T (TTN) MANE Select	ENSP00000467141.1:p.Ser25162Ile
ENST00000591111.5:c.70562G>T (TTN)	ENSP00000465570.1:p.Ser23521Ile
ENST00000615779.4:c.70562G>T (TTN)	ENSP00000483597.1:p.Ser23521Ile
NM_001256850.1:c.70562G>T (TTN)	NP_001243779.1:p.Ser23521Ile
NM_001267550.2:c.75485G>T (TTN) MANE Select	NP_001254479.2:p.Ser25162Ile
NM_003319.4:c.48290G>T (TTN)	NP_003310.4:p.Ser16097Ile
NM_133378.4:c.67781G>T (TTN)	NP_596869.4:p.Ser22594Ile
NM_133432.3:c.48665G>T (TTN)	NP_597676.3:p.Ser16222Ile
NM_133437.4:c.48866G>T (TTN)	NP_597681.4:p.Ser16289Ile
NR_038271.1:n.447-653C>A (TTN-AS1)
NR_038272.1:n.2044-11925C>A (TTN-AS1)
XM_011511729.1:c.74582G>T (TTN)	XP_011510031.1:p.Ser24861Ile
XM_011511730.1:c.48476G>T (TTN)	XP_011510032.1:p.Ser16159Ile
XM_011511731.1:c.48335G>T (TTN)	XP_011510033.1:p.Ser16112Ile
XM_017004819.1:c.74378G>T (TTN)	XP_016860308.1:p.Ser24793Ile
XM_017004820.1:c.69776G>T (TTN)	XP_016860309.1:p.Ser23259Ile
XM_017004821.1:c.69773G>T (TTN)	XP_016860310.1:p.Ser23258Ile
XM_017004822.1:c.66815G>T (TTN)	XP_016860311.1:p.Ser22272Ile
XM_017004823.1:c.48431G>T (TTN)	XP_016860312.1:p.Ser16144Ile
XM_024453094.1:c.69926G>T (TTN)	XP_024308862.1:p.Ser23309Ile
XM_024453095.1:c.69923G>T (TTN)	XP_024308863.1:p.Ser23308Ile
XM_024453096.1:c.69356G>T (TTN)	XP_024308864.1:p.Ser23119Ile
XM_024453097.1:c.66698G>T (TTN)	XP_024308865.1:p.Ser22233Ile
XM_024453098.1:c.66617G>T (TTN)	XP_024308866.1:p.Ser22206Ile
XM_024453099.1:c.48380G>T (TTN)	XP_024308867.1:p.Ser16127Ile
XM_024453100.1:c.38234G>T (TTN)	XP_024308868.1:p.Ser12745Ile