Canonical Allele Identifier: CA349445793

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179407985G>C (hg19) ; chr2:g.178543258G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543258G>C , CM000664.2:g.178543258G>C	GRCh38
NC_000002.11:g.179407985G>C , CM000664.1:g.179407985G>C	GRCh37
NC_000002.10:g.179116231G>C	NCBI36
NG_011618.3:g.292545C>G , LRG_391:g.292545C>G
NG_051363.1:g.25432G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.89011C>G (TTN)	ENSP00000343764.6:p.Leu29671Val
ENST00000342175.11:c.70096C>G (TTN)	ENSP00000340554.6:p.Leu23366Val
ENST00000359218.10:c.69895C>G (TTN)	ENSP00000352154.5:p.Leu23299Val
ENST00000342175.10:c.70096C>G (TTN)	ENSP00000340554.6:p.Leu23366Val
ENST00000342992.10:c.89011C>G (TTN)	ENSP00000343764.6:p.Leu29671Val
ENST00000359218.9:c.69895C>G (TTN)	ENSP00000352154.5:p.Leu23299Val
ENST00000460472.6:c.69520C>G (TTN)	ENSP00000434586.1:p.Leu23174Val
ENST00000589042.5:c.96715C>G (TTN) MANE Select	ENSP00000467141.1:p.Leu32239Val
ENST00000591111.5:c.91792C>G (TTN)	ENSP00000465570.1:p.Leu30598Val
ENST00000615779.4:c.91792C>G (TTN)	ENSP00000483597.1:p.Leu30598Val
NM_001256850.1:c.91792C>G (TTN)	NP_001243779.1:p.Leu30598Val
NM_001267550.2:c.96715C>G (TTN) MANE Select	NP_001254479.2:p.Leu32239Val
NM_003319.4:c.69520C>G (TTN)	NP_003310.4:p.Leu23174Val
NM_133378.4:c.89011C>G (TTN)	NP_596869.4:p.Leu29671Val
NM_133432.3:c.69895C>G (TTN)	NP_597676.3:p.Leu23299Val
NM_133437.4:c.70096C>G (TTN)	NP_597681.4:p.Leu23366Val
NR_038271.1:n.446+19622G>C (TTN-AS1)
NR_038272.1:n.2043+897G>C (TTN-AS1)
XM_011511729.1:c.95812C>G (TTN)	XP_011510031.1:p.Leu31938Val
XM_011511730.1:c.69706C>G (TTN)	XP_011510032.1:p.Leu23236Val
XM_011511731.1:c.69565C>G (TTN)	XP_011510033.1:p.Leu23189Val
XM_017004819.1:c.95608C>G (TTN)	XP_016860308.1:p.Leu31870Val
XM_017004820.1:c.91006C>G (TTN)	XP_016860309.1:p.Leu30336Val
XM_017004821.1:c.91003C>G (TTN)	XP_016860310.1:p.Leu30335Val
XM_017004822.1:c.88045C>G (TTN)	XP_016860311.1:p.Leu29349Val
XM_017004823.1:c.69661C>G (TTN)	XP_016860312.1:p.Leu23221Val
XM_024453094.1:c.91156C>G (TTN)	XP_024308862.1:p.Leu30386Val
XM_024453095.1:c.91153C>G (TTN)	XP_024308863.1:p.Leu30385Val
XM_024453096.1:c.90586C>G (TTN)	XP_024308864.1:p.Leu30196Val
XM_024453097.1:c.87928C>G (TTN)	XP_024308865.1:p.Leu29310Val
XM_024453098.1:c.87847C>G (TTN)	XP_024308866.1:p.Leu29283Val
XM_024453099.1:c.69610C>G (TTN)	XP_024308867.1:p.Leu23204Val
XM_024453100.1:c.59464C>G (TTN)	XP_024308868.1:p.Leu19822Val