Canonical Allele Identifier: CA349456918

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179409112C>A (hg19) ; chr2:g.178544385C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544385C>A , CM000664.2:g.178544385C>A	GRCh38
NC_000002.11:g.179409112C>A , CM000664.1:g.179409112C>A	GRCh37
NC_000002.10:g.179117358C>A	NCBI36
NG_011618.3:g.291418G>T , LRG_391:g.291418G>T
NG_051363.1:g.26559C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88140G>T (TTN)	ENSP00000343764.6:p.Met29380Ile
ENST00000342175.11:c.69225G>T (TTN)	ENSP00000340554.6:p.Met23075Ile
ENST00000359218.10:c.69024G>T (TTN)	ENSP00000352154.5:p.Met23008Ile
ENST00000342175.10:c.69225G>T (TTN)	ENSP00000340554.6:p.Met23075Ile
ENST00000342992.10:c.88140G>T (TTN)	ENSP00000343764.6:p.Met29380Ile
ENST00000359218.9:c.69024G>T (TTN)	ENSP00000352154.5:p.Met23008Ile
ENST00000460472.6:c.68649G>T (TTN)	ENSP00000434586.1:p.Met22883Ile
ENST00000589042.5:c.95844G>T (TTN) MANE Select	ENSP00000467141.1:p.Met31948Ile
ENST00000591111.5:c.90921G>T (TTN)	ENSP00000465570.1:p.Met30307Ile
ENST00000615779.4:c.90921G>T (TTN)	ENSP00000483597.1:p.Met30307Ile
NM_001256850.1:c.90921G>T (TTN)	NP_001243779.1:p.Met30307Ile
NM_001267550.2:c.95844G>T (TTN) MANE Select	NP_001254479.2:p.Met31948Ile
NM_003319.4:c.68649G>T (TTN)	NP_003310.4:p.Met22883Ile
NM_133378.4:c.88140G>T (TTN)	NP_596869.4:p.Met29380Ile
NM_133432.3:c.69024G>T (TTN)	NP_597676.3:p.Met23008Ile
NM_133437.4:c.69225G>T (TTN)	NP_597681.4:p.Met23075Ile
NR_038271.1:n.446+20749C>A (TTN-AS1)
NR_038272.1:n.2043+2024C>A (TTN-AS1)
XM_011511729.1:c.94941G>T (TTN)	XP_011510031.1:p.Met31647Ile
XM_011511730.1:c.68835G>T (TTN)	XP_011510032.1:p.Met22945Ile
XM_011511731.1:c.68694G>T (TTN)	XP_011510033.1:p.Met22898Ile
XM_017004819.1:c.94737G>T (TTN)	XP_016860308.1:p.Met31579Ile
XM_017004820.1:c.90135G>T (TTN)	XP_016860309.1:p.Met30045Ile
XM_017004821.1:c.90132G>T (TTN)	XP_016860310.1:p.Met30044Ile
XM_017004822.1:c.87174G>T (TTN)	XP_016860311.1:p.Met29058Ile
XM_017004823.1:c.68790G>T (TTN)	XP_016860312.1:p.Met22930Ile
XM_024453094.1:c.90285G>T (TTN)	XP_024308862.1:p.Met30095Ile
XM_024453095.1:c.90282G>T (TTN)	XP_024308863.1:p.Met30094Ile
XM_024453096.1:c.89715G>T (TTN)	XP_024308864.1:p.Met29905Ile
XM_024453097.1:c.87057G>T (TTN)	XP_024308865.1:p.Met29019Ile
XM_024453098.1:c.86976G>T (TTN)	XP_024308866.1:p.Met28992Ile
XM_024453099.1:c.68739G>T (TTN)	XP_024308867.1:p.Met22913Ile
XM_024453100.1:c.58593G>T (TTN)	XP_024308868.1:p.Met19531Ile