Canonical Allele Identifier: CA349423355

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs2047228338
• MyVariant Identifiers: chr2:g.179444303C>T (hg19) ; chr2:g.178579576C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178579576C>T , CM000664.2:g.178579576C>T	GRCh38
NC_000002.11:g.179444303C>T , CM000664.1:g.179444303C>T	GRCh37
NC_000002.10:g.179152549C>T	NCBI36
NG_011618.3:g.256227G>A , LRG_391:g.256227G>A
NG_051363.1:g.61750C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.59917G>A (TTN)	ENSP00000343764.6:p.Ala19973Thr
ENST00000342175.11:c.41002G>A (TTN)	ENSP00000340554.6:p.Ala13668Thr
ENST00000359218.10:c.40801G>A (TTN)	ENSP00000352154.5:p.Ala13601Thr
ENST00000342175.10:c.41002G>A (TTN)	ENSP00000340554.6:p.Ala13668Thr
ENST00000342992.10:c.59917G>A (TTN)	ENSP00000343764.6:p.Ala19973Thr
ENST00000359218.9:c.40801G>A (TTN)	ENSP00000352154.5:p.Ala13601Thr
ENST00000460472.6:c.40426G>A (TTN)	ENSP00000434586.1:p.Ala13476Thr
ENST00000589042.5:c.67621G>A (TTN) MANE Select	ENSP00000467141.1:p.Ala22541Thr
ENST00000591111.5:c.62698G>A (TTN)	ENSP00000465570.1:p.Ala20900Thr
ENST00000615779.4:c.62698G>A (TTN)	ENSP00000483597.1:p.Ala20900Thr
NM_001256850.1:c.62698G>A (TTN)	NP_001243779.1:p.Ala20900Thr
NM_001267550.2:c.67621G>A (TTN) MANE Select	NP_001254479.2:p.Ala22541Thr
NM_003319.4:c.40426G>A (TTN)	NP_003310.4:p.Ala13476Thr
NM_133378.4:c.59917G>A (TTN)	NP_596869.4:p.Ala19973Thr
NM_133432.3:c.40801G>A (TTN)	NP_597676.3:p.Ala13601Thr
NM_133437.4:c.41002G>A (TTN)	NP_597681.4:p.Ala13668Thr
NR_038271.1:n.596+8127C>T (TTN-AS1)
NR_038272.1:n.2044-2996C>T (TTN-AS1)
XM_011511729.1:c.66718G>A (TTN)	XP_011510031.1:p.Ala22240Thr
XM_011511730.1:c.40612G>A (TTN)	XP_011510032.1:p.Ala13538Thr
XM_011511731.1:c.40471G>A (TTN)	XP_011510033.1:p.Ala13491Thr
XM_017004819.1:c.66514G>A (TTN)	XP_016860308.1:p.Ala22172Thr
XM_017004820.1:c.61912G>A (TTN)	XP_016860309.1:p.Ala20638Thr
XM_017004821.1:c.61909G>A (TTN)	XP_016860310.1:p.Ala20637Thr
XM_017004822.1:c.58951G>A (TTN)	XP_016860311.1:p.Ala19651Thr
XM_017004823.1:c.40567G>A (TTN)	XP_016860312.1:p.Ala13523Thr
XM_024453094.1:c.62062G>A (TTN)	XP_024308862.1:p.Ala20688Thr
XM_024453095.1:c.62059G>A (TTN)	XP_024308863.1:p.Ala20687Thr
XM_024453096.1:c.61492G>A (TTN)	XP_024308864.1:p.Ala20498Thr
XM_024453097.1:c.58834G>A (TTN)	XP_024308865.1:p.Ala19612Thr
XM_024453098.1:c.58753G>A (TTN)	XP_024308866.1:p.Ala19585Thr
XM_024453099.1:c.40516G>A (TTN)	XP_024308867.1:p.Ala13506Thr
XM_024453100.1:c.30370G>A (TTN)	XP_024308868.1:p.Ala10124Thr