Canonical Allele Identifier: CA349581114

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178564510-C-T
• COSMIC: COSM4596162 ; COSM4596163 ; COSM4596164 ; COSM4596165
• MyVariant Identifiers: chr2:g.179429237C>T (hg19) ; chr2:g.178564510C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178564510C>T , CM000664.2:g.178564510C>T	GRCh38
NC_000002.11:g.179429237C>T , CM000664.1:g.179429237C>T	GRCh37
NC_000002.10:g.179137483C>T	NCBI36
NG_011618.3:g.271293G>A , LRG_391:g.271293G>A
NG_051363.1:g.46684C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.73918G>A (TTN)	ENSP00000343764.6:p.Glu24640Lys
ENST00000342175.11:c.55003G>A (TTN)	ENSP00000340554.6:p.Glu18335Lys
ENST00000359218.10:c.54802G>A (TTN)	ENSP00000352154.5:p.Glu18268Lys
ENST00000342175.10:c.55003G>A (TTN)	ENSP00000340554.6:p.Glu18335Lys
ENST00000342992.10:c.73918G>A (TTN)	ENSP00000343764.6:p.Glu24640Lys
ENST00000359218.9:c.54802G>A (TTN)	ENSP00000352154.5:p.Glu18268Lys
ENST00000460472.6:c.54427G>A (TTN)	ENSP00000434586.1:p.Glu18143Lys
ENST00000589042.5:c.81622G>A (TTN) MANE Select	ENSP00000467141.1:p.Glu27208Lys
ENST00000591111.5:c.76699G>A (TTN)	ENSP00000465570.1:p.Glu25567Lys
ENST00000615779.4:c.76699G>A (TTN)	ENSP00000483597.1:p.Glu25567Lys
NM_001256850.1:c.76699G>A (TTN)	NP_001243779.1:p.Glu25567Lys
NM_001267550.2:c.81622G>A (TTN) MANE Select	NP_001254479.2:p.Glu27208Lys
NM_003319.4:c.54427G>A (TTN)	NP_003310.4:p.Glu18143Lys
NM_133378.4:c.73918G>A (TTN)	NP_596869.4:p.Glu24640Lys
NM_133432.3:c.54802G>A (TTN)	NP_597676.3:p.Glu18268Lys
NM_133437.4:c.55003G>A (TTN)	NP_597681.4:p.Glu18335Lys
NR_038271.1:n.447-6790C>T (TTN-AS1)
NR_038272.1:n.2044-18062C>T (TTN-AS1)
XM_011511729.1:c.80719G>A (TTN)	XP_011510031.1:p.Glu26907Lys
XM_011511730.1:c.54613G>A (TTN)	XP_011510032.1:p.Glu18205Lys
XM_011511731.1:c.54472G>A (TTN)	XP_011510033.1:p.Glu18158Lys
XM_017004819.1:c.80515G>A (TTN)	XP_016860308.1:p.Glu26839Lys
XM_017004820.1:c.75913G>A (TTN)	XP_016860309.1:p.Glu25305Lys
XM_017004821.1:c.75910G>A (TTN)	XP_016860310.1:p.Glu25304Lys
XM_017004822.1:c.72952G>A (TTN)	XP_016860311.1:p.Glu24318Lys
XM_017004823.1:c.54568G>A (TTN)	XP_016860312.1:p.Glu18190Lys
XM_024453094.1:c.76063G>A (TTN)	XP_024308862.1:p.Glu25355Lys
XM_024453095.1:c.76060G>A (TTN)	XP_024308863.1:p.Glu25354Lys
XM_024453096.1:c.75493G>A (TTN)	XP_024308864.1:p.Glu25165Lys
XM_024453097.1:c.72835G>A (TTN)	XP_024308865.1:p.Glu24279Lys
XM_024453098.1:c.72754G>A (TTN)	XP_024308866.1:p.Glu24252Lys
XM_024453099.1:c.54517G>A (TTN)	XP_024308867.1:p.Glu18173Lys
XM_024453100.1:c.44371G>A (TTN)	XP_024308868.1:p.Glu14791Lys