Canonical Allele Identifier: CA349407132

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395288A>C (hg19) ; chr2:g.178530561A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530561A>C , CM000664.2:g.178530561A>C	GRCh38
NC_000002.11:g.179395288A>C , CM000664.1:g.179395288A>C	GRCh37
NC_000002.10:g.179103534A>C	NCBI36
NG_011618.3:g.305242T>G , LRG_391:g.305242T>G
NG_051363.1:g.12735A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98350T>G (TTN)	ENSP00000343764.6:p.Ser32784Ala
ENST00000342175.11:c.79435T>G (TTN)	ENSP00000340554.6:p.Ser26479Ala
ENST00000359218.10:c.79234T>G (TTN)	ENSP00000352154.5:p.Ser26412Ala
ENST00000342175.10:c.79435T>G (TTN)	ENSP00000340554.6:p.Ser26479Ala
ENST00000342992.10:c.98350T>G (TTN)	ENSP00000343764.6:p.Ser32784Ala
ENST00000359218.9:c.79234T>G (TTN)	ENSP00000352154.5:p.Ser26412Ala
ENST00000460472.6:c.78859T>G (TTN)	ENSP00000434586.1:p.Ser26287Ala
ENST00000589042.5:c.106054T>G (TTN) MANE Select	ENSP00000467141.1:p.Ser35352Ala
ENST00000591111.5:c.101131T>G (TTN)	ENSP00000465570.1:p.Ser33711Ala
ENST00000615779.4:c.101131T>G (TTN)	ENSP00000483597.1:p.Ser33711Ala
NM_001256850.1:c.101131T>G (TTN)	NP_001243779.1:p.Ser33711Ala
NM_001267550.2:c.106054T>G (TTN) MANE Select	NP_001254479.2:p.Ser35352Ala
NM_003319.4:c.78859T>G (TTN)	NP_003310.4:p.Ser26287Ala
NM_133378.4:c.98350T>G (TTN)	NP_596869.4:p.Ser32784Ala
NM_133432.3:c.79234T>G (TTN)	NP_597676.3:p.Ser26412Ala
NM_133437.4:c.79435T>G (TTN)	NP_597681.4:p.Ser26479Ala
NR_038271.1:n.446+6925A>C (TTN-AS1)
NR_038272.1:n.220-5171A>C (TTN-AS1)
XM_011511729.1:c.105151T>G (TTN)	XP_011510031.1:p.Ser35051Ala
XM_011511730.1:c.79045T>G (TTN)	XP_011510032.1:p.Ser26349Ala
XM_011511731.1:c.78904T>G (TTN)	XP_011510033.1:p.Ser26302Ala
XM_017004819.1:c.104947T>G (TTN)	XP_016860308.1:p.Ser34983Ala
XM_017004820.1:c.100345T>G (TTN)	XP_016860309.1:p.Ser33449Ala
XM_017004821.1:c.100342T>G (TTN)	XP_016860310.1:p.Ser33448Ala
XM_017004822.1:c.97384T>G (TTN)	XP_016860311.1:p.Ser32462Ala
XM_017004823.1:c.79000T>G (TTN)	XP_016860312.1:p.Ser26334Ala
XM_024453094.1:c.100495T>G (TTN)	XP_024308862.1:p.Ser33499Ala
XM_024453095.1:c.100492T>G (TTN)	XP_024308863.1:p.Ser33498Ala
XM_024453096.1:c.99925T>G (TTN)	XP_024308864.1:p.Ser33309Ala
XM_024453097.1:c.97267T>G (TTN)	XP_024308865.1:p.Ser32423Ala
XM_024453098.1:c.97186T>G (TTN)	XP_024308866.1:p.Ser32396Ala
XM_024453099.1:c.78949T>G (TTN)	XP_024308867.1:p.Ser26317Ala
XM_024453100.1:c.68803T>G (TTN)	XP_024308868.1:p.Ser22935Ala