Canonical Allele Identifier: CA349454929

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM1305919 ; COSM1305920 ; COSM1305921 ; COSM1305922
• MyVariant Identifiers: chr2:g.179408943G>T (hg19) ; chr2:g.178544216G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544216G>T , CM000664.2:g.178544216G>T	GRCh38
NC_000002.11:g.179408943G>T , CM000664.1:g.179408943G>T	GRCh37
NC_000002.10:g.179117189G>T	NCBI36
NG_011618.3:g.291587C>A , LRG_391:g.291587C>A
NG_051363.1:g.26390G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.88309C>A (TTN)	ENSP00000343764.6:p.Pro29437Thr
ENST00000342175.11:c.69394C>A (TTN)	ENSP00000340554.6:p.Pro23132Thr
ENST00000359218.10:c.69193C>A (TTN)	ENSP00000352154.5:p.Pro23065Thr
ENST00000342175.10:c.69394C>A (TTN)	ENSP00000340554.6:p.Pro23132Thr
ENST00000342992.10:c.88309C>A (TTN)	ENSP00000343764.6:p.Pro29437Thr
ENST00000359218.9:c.69193C>A (TTN)	ENSP00000352154.5:p.Pro23065Thr
ENST00000460472.6:c.68818C>A (TTN)	ENSP00000434586.1:p.Pro22940Thr
ENST00000589042.5:c.96013C>A (TTN) MANE Select	ENSP00000467141.1:p.Pro32005Thr
ENST00000591111.5:c.91090C>A (TTN)	ENSP00000465570.1:p.Pro30364Thr
ENST00000615779.4:c.91090C>A (TTN)	ENSP00000483597.1:p.Pro30364Thr
NM_001256850.1:c.91090C>A (TTN)	NP_001243779.1:p.Pro30364Thr
NM_001267550.2:c.96013C>A (TTN) MANE Select	NP_001254479.2:p.Pro32005Thr
NM_003319.4:c.68818C>A (TTN)	NP_003310.4:p.Pro22940Thr
NM_133378.4:c.88309C>A (TTN)	NP_596869.4:p.Pro29437Thr
NM_133432.3:c.69193C>A (TTN)	NP_597676.3:p.Pro23065Thr
NM_133437.4:c.69394C>A (TTN)	NP_597681.4:p.Pro23132Thr
NR_038271.1:n.446+20580G>T (TTN-AS1)
NR_038272.1:n.2043+1855G>T (TTN-AS1)
XM_011511729.1:c.95110C>A (TTN)	XP_011510031.1:p.Pro31704Thr
XM_011511730.1:c.69004C>A (TTN)	XP_011510032.1:p.Pro23002Thr
XM_011511731.1:c.68863C>A (TTN)	XP_011510033.1:p.Pro22955Thr
XM_017004819.1:c.94906C>A (TTN)	XP_016860308.1:p.Pro31636Thr
XM_017004820.1:c.90304C>A (TTN)	XP_016860309.1:p.Pro30102Thr
XM_017004821.1:c.90301C>A (TTN)	XP_016860310.1:p.Pro30101Thr
XM_017004822.1:c.87343C>A (TTN)	XP_016860311.1:p.Pro29115Thr
XM_017004823.1:c.68959C>A (TTN)	XP_016860312.1:p.Pro22987Thr
XM_024453094.1:c.90454C>A (TTN)	XP_024308862.1:p.Pro30152Thr
XM_024453095.1:c.90451C>A (TTN)	XP_024308863.1:p.Pro30151Thr
XM_024453096.1:c.89884C>A (TTN)	XP_024308864.1:p.Pro29962Thr
XM_024453097.1:c.87226C>A (TTN)	XP_024308865.1:p.Pro29076Thr
XM_024453098.1:c.87145C>A (TTN)	XP_024308866.1:p.Pro29049Thr
XM_024453099.1:c.68908C>A (TTN)	XP_024308867.1:p.Pro22970Thr
XM_024453100.1:c.58762C>A (TTN)	XP_024308868.1:p.Pro19588Thr