Canonical Allele Identifier: CA349582555

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178609690-G-T
• COSMIC: COSM476466 ; COSM476467 ; COSM476468 ; COSM1136480
• MyVariant Identifiers: chr2:g.179474417G>T (hg19) ; chr2:g.178609690G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178609690G>T , CM000664.2:g.178609690G>T	GRCh38
NC_000002.11:g.179474417G>T , CM000664.1:g.179474417G>T	GRCh37
NC_000002.10:g.179182662G>T	NCBI36
NG_011618.3:g.226113C>A , LRG_391:g.226113C>A
NG_051363.1:g.91864G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.44029C>A (TTN)	ENSP00000343764.6:p.Pro14677Thr
ENST00000342175.11:c.25114C>A (TTN)	ENSP00000340554.6:p.Pro8372Thr
ENST00000359218.10:c.24913C>A (TTN)	ENSP00000352154.5:p.Pro8305Thr
ENST00000342175.10:c.25114C>A (TTN)	ENSP00000340554.6:p.Pro8372Thr
ENST00000342992.10:c.44029C>A (TTN)	ENSP00000343764.6:p.Pro14677Thr
ENST00000359218.9:c.24913C>A (TTN)	ENSP00000352154.5:p.Pro8305Thr
ENST00000460472.6:c.24538C>A (TTN)	ENSP00000434586.1:p.Pro8180Thr
ENST00000589042.5:c.51733C>A (TTN) MANE Select	ENSP00000467141.1:p.Pro17245Thr
ENST00000591111.5:c.46810C>A (TTN)	ENSP00000465570.1:p.Pro15604Thr
ENST00000615779.4:c.46810C>A (TTN)	ENSP00000483597.1:p.Pro15604Thr
NM_001256850.1:c.46810C>A (TTN)	NP_001243779.1:p.Pro15604Thr
NM_001267550.2:c.51733C>A (TTN) MANE Select	NP_001254479.2:p.Pro17245Thr
NM_003319.4:c.24538C>A (TTN)	NP_003310.4:p.Pro8180Thr
NM_133378.4:c.44029C>A (TTN)	NP_596869.4:p.Pro14677Thr
NM_133432.3:c.24913C>A (TTN)	NP_597676.3:p.Pro8305Thr
NM_133437.4:c.25114C>A (TTN)	NP_597681.4:p.Pro8372Thr
NR_038271.1:n.782+1424G>T (TTN-AS1)
XM_011511729.1:c.50830C>A (TTN)	XP_011510031.1:p.Pro16944Thr
XM_011511730.1:c.24724C>A (TTN)	XP_011510032.1:p.Pro8242Thr
XM_011511731.1:c.24583C>A (TTN)	XP_011510033.1:p.Pro8195Thr
XM_017004819.1:c.50626C>A (TTN)	XP_016860308.1:p.Pro16876Thr
XM_017004820.1:c.46024C>A (TTN)	XP_016860309.1:p.Pro15342Thr
XM_017004821.1:c.46021C>A (TTN)	XP_016860310.1:p.Pro15341Thr
XM_017004822.1:c.43063C>A (TTN)	XP_016860311.1:p.Pro14355Thr
XM_017004823.1:c.24679C>A (TTN)	XP_016860312.1:p.Pro8227Thr
XM_024453094.1:c.46174C>A (TTN)	XP_024308862.1:p.Pro15392Thr
XM_024453095.1:c.46171C>A (TTN)	XP_024308863.1:p.Pro15391Thr
XM_024453096.1:c.45604C>A (TTN)	XP_024308864.1:p.Pro15202Thr
XM_024453097.1:c.42946C>A (TTN)	XP_024308865.1:p.Pro14316Thr
XM_024453098.1:c.42865C>A (TTN)	XP_024308866.1:p.Pro14289Thr
XM_024453099.1:c.24628C>A (TTN)	XP_024308867.1:p.Pro8210Thr
XM_024453100.1:c.14482C>A (TTN)	XP_024308868.1:p.Pro4828Thr