Canonical Allele Identifier: CA349544908

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179424568A>C (hg19) ; chr2:g.178559841A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178559841A>C , CM000664.2:g.178559841A>C	GRCh38
NC_000002.11:g.179424568A>C , CM000664.1:g.179424568A>C	GRCh37
NC_000002.10:g.179132814A>C	NCBI36
NG_011618.3:g.275962T>G , LRG_391:g.275962T>G
NG_051363.1:g.42015A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.78587T>G (TTN)	ENSP00000343764.6:p.Leu26196Trp
ENST00000342175.11:c.59672T>G (TTN)	ENSP00000340554.6:p.Leu19891Trp
ENST00000359218.10:c.59471T>G (TTN)	ENSP00000352154.5:p.Leu19824Trp
ENST00000342175.10:c.59672T>G (TTN)	ENSP00000340554.6:p.Leu19891Trp
ENST00000342992.10:c.78587T>G (TTN)	ENSP00000343764.6:p.Leu26196Trp
ENST00000359218.9:c.59471T>G (TTN)	ENSP00000352154.5:p.Leu19824Trp
ENST00000460472.6:c.59096T>G (TTN)	ENSP00000434586.1:p.Leu19699Trp
ENST00000589042.5:c.86291T>G (TTN) MANE Select	ENSP00000467141.1:p.Leu28764Trp
ENST00000591111.5:c.81368T>G (TTN)	ENSP00000465570.1:p.Leu27123Trp
ENST00000615779.4:c.81368T>G (TTN)	ENSP00000483597.1:p.Leu27123Trp
NM_001256850.1:c.81368T>G (TTN)	NP_001243779.1:p.Leu27123Trp
NM_001267550.2:c.86291T>G (TTN) MANE Select	NP_001254479.2:p.Leu28764Trp
NM_003319.4:c.59096T>G (TTN)	NP_003310.4:p.Leu19699Trp
NM_133378.4:c.78587T>G (TTN)	NP_596869.4:p.Leu26196Trp
NM_133432.3:c.59471T>G (TTN)	NP_597676.3:p.Leu19824Trp
NM_133437.4:c.59672T>G (TTN)	NP_597681.4:p.Leu19891Trp
NR_038271.1:n.447-11459A>C (TTN-AS1)
NR_038272.1:n.2043+17480A>C (TTN-AS1)
XM_011511729.1:c.85388T>G (TTN)	XP_011510031.1:p.Leu28463Trp
XM_011511730.1:c.59282T>G (TTN)	XP_011510032.1:p.Leu19761Trp
XM_011511731.1:c.59141T>G (TTN)	XP_011510033.1:p.Leu19714Trp
XM_017004819.1:c.85184T>G (TTN)	XP_016860308.1:p.Leu28395Trp
XM_017004820.1:c.80582T>G (TTN)	XP_016860309.1:p.Leu26861Trp
XM_017004821.1:c.80579T>G (TTN)	XP_016860310.1:p.Leu26860Trp
XM_017004822.1:c.77621T>G (TTN)	XP_016860311.1:p.Leu25874Trp
XM_017004823.1:c.59237T>G (TTN)	XP_016860312.1:p.Leu19746Trp
XM_024453094.1:c.80732T>G (TTN)	XP_024308862.1:p.Leu26911Trp
XM_024453095.1:c.80729T>G (TTN)	XP_024308863.1:p.Leu26910Trp
XM_024453096.1:c.80162T>G (TTN)	XP_024308864.1:p.Leu26721Trp
XM_024453097.1:c.77504T>G (TTN)	XP_024308865.1:p.Leu25835Trp
XM_024453098.1:c.77423T>G (TTN)	XP_024308866.1:p.Leu25808Trp
XM_024453099.1:c.59186T>G (TTN)	XP_024308867.1:p.Leu19729Trp
XM_024453100.1:c.49040T>G (TTN)	XP_024308868.1:p.Leu16347Trp