Canonical Allele Identifier: CA178523

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 165853
• ClinVar RCV Id: RCV000152225
• dbSNP Id: rs727503566
• MyVariant Identifiers: chr2:g.179439527C>T (hg19) ; chr2:g.178574800C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178574800C>T , CM000664.2:g.178574800C>T	GRCh38
NC_000002.11:g.179439527C>T , CM000664.1:g.179439527C>T	GRCh37
NC_000002.10:g.179147773C>T	NCBI36
NG_011618.3:g.261003G>A , LRG_391:g.261003G>A
NG_051363.1:g.56974C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.63628G>A (TTN)	ENSP00000343764.6:p.Ala21210Thr
ENST00000342175.11:c.44713G>A (TTN)	ENSP00000340554.6:p.Ala14905Thr
ENST00000359218.10:c.44512G>A (TTN)	ENSP00000352154.5:p.Ala14838Thr
ENST00000342175.10:c.44713G>A (TTN)	ENSP00000340554.6:p.Ala14905Thr
ENST00000342992.10:c.63628G>A (TTN)	ENSP00000343764.6:p.Ala21210Thr
ENST00000359218.9:c.44512G>A (TTN)	ENSP00000352154.5:p.Ala14838Thr
ENST00000460472.6:c.44137G>A (TTN)	ENSP00000434586.1:p.Ala14713Thr
ENST00000589042.5:c.71332G>A (TTN) MANE Select	ENSP00000467141.1:p.Ala23778Thr
ENST00000591111.5:c.66409G>A (TTN)	ENSP00000465570.1:p.Ala22137Thr
ENST00000615779.4:c.66409G>A (TTN)	ENSP00000483597.1:p.Ala22137Thr
NM_001256850.1:c.66409G>A (TTN)	NP_001243779.1:p.Ala22137Thr
NM_001267550.2:c.71332G>A (TTN) MANE Select	NP_001254479.2:p.Ala23778Thr
NM_003319.4:c.44137G>A (TTN)	NP_003310.4:p.Ala14713Thr
NM_133378.4:c.63628G>A (TTN)	NP_596869.4:p.Ala21210Thr
NM_133432.3:c.44512G>A (TTN)	NP_597676.3:p.Ala14838Thr
NM_133437.4:c.44713G>A (TTN)	NP_597681.4:p.Ala14905Thr
NR_038271.1:n.596+3351C>T (TTN-AS1)
NR_038272.1:n.2044-7772C>T (TTN-AS1)
XM_011511729.1:c.70429G>A (TTN)	XP_011510031.1:p.Ala23477Thr
XM_011511730.1:c.44323G>A (TTN)	XP_011510032.1:p.Ala14775Thr
XM_011511731.1:c.44182G>A (TTN)	XP_011510033.1:p.Ala14728Thr
XM_017004819.1:c.70225G>A (TTN)	XP_016860308.1:p.Ala23409Thr
XM_017004820.1:c.65623G>A (TTN)	XP_016860309.1:p.Ala21875Thr
XM_017004821.1:c.65620G>A (TTN)	XP_016860310.1:p.Ala21874Thr
XM_017004822.1:c.62662G>A (TTN)	XP_016860311.1:p.Ala20888Thr
XM_017004823.1:c.44278G>A (TTN)	XP_016860312.1:p.Ala14760Thr
XM_024453094.1:c.65773G>A (TTN)	XP_024308862.1:p.Ala21925Thr
XM_024453095.1:c.65770G>A (TTN)	XP_024308863.1:p.Ala21924Thr
XM_024453096.1:c.65203G>A (TTN)	XP_024308864.1:p.Ala21735Thr
XM_024453097.1:c.62545G>A (TTN)	XP_024308865.1:p.Ala20849Thr
XM_024453098.1:c.62464G>A (TTN)	XP_024308866.1:p.Ala20822Thr
XM_024453099.1:c.44227G>A (TTN)	XP_024308867.1:p.Ala14743Thr
XM_024453100.1:c.34081G>A (TTN)	XP_024308868.1:p.Ala11361Thr