Canonical Allele Identifier: CA349407066

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395258A>C (hg19) ; chr2:g.178530531A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530531A>C , CM000664.2:g.178530531A>C	GRCh38
NC_000002.11:g.179395258A>C , CM000664.1:g.179395258A>C	GRCh37
NC_000002.10:g.179103504A>C	NCBI36
NG_011618.3:g.305272T>G , LRG_391:g.305272T>G
NG_051363.1:g.12705A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98380T>G (TTN)	ENSP00000343764.6:p.Ser32794Ala
ENST00000342175.11:c.79465T>G (TTN)	ENSP00000340554.6:p.Ser26489Ala
ENST00000359218.10:c.79264T>G (TTN)	ENSP00000352154.5:p.Ser26422Ala
ENST00000342175.10:c.79465T>G (TTN)	ENSP00000340554.6:p.Ser26489Ala
ENST00000342992.10:c.98380T>G (TTN)	ENSP00000343764.6:p.Ser32794Ala
ENST00000359218.9:c.79264T>G (TTN)	ENSP00000352154.5:p.Ser26422Ala
ENST00000460472.6:c.78889T>G (TTN)	ENSP00000434586.1:p.Ser26297Ala
ENST00000589042.5:c.106084T>G (TTN) MANE Select	ENSP00000467141.1:p.Ser35362Ala
ENST00000591111.5:c.101161T>G (TTN)	ENSP00000465570.1:p.Ser33721Ala
ENST00000615779.4:c.101161T>G (TTN)	ENSP00000483597.1:p.Ser33721Ala
NM_001256850.1:c.101161T>G (TTN)	NP_001243779.1:p.Ser33721Ala
NM_001267550.2:c.106084T>G (TTN) MANE Select	NP_001254479.2:p.Ser35362Ala
NM_003319.4:c.78889T>G (TTN)	NP_003310.4:p.Ser26297Ala
NM_133378.4:c.98380T>G (TTN)	NP_596869.4:p.Ser32794Ala
NM_133432.3:c.79264T>G (TTN)	NP_597676.3:p.Ser26422Ala
NM_133437.4:c.79465T>G (TTN)	NP_597681.4:p.Ser26489Ala
NR_038271.1:n.446+6895A>C (TTN-AS1)
NR_038272.1:n.220-5201A>C (TTN-AS1)
XM_011511729.1:c.105181T>G (TTN)	XP_011510031.1:p.Ser35061Ala
XM_011511730.1:c.79075T>G (TTN)	XP_011510032.1:p.Ser26359Ala
XM_011511731.1:c.78934T>G (TTN)	XP_011510033.1:p.Ser26312Ala
XM_017004819.1:c.104977T>G (TTN)	XP_016860308.1:p.Ser34993Ala
XM_017004820.1:c.100375T>G (TTN)	XP_016860309.1:p.Ser33459Ala
XM_017004821.1:c.100372T>G (TTN)	XP_016860310.1:p.Ser33458Ala
XM_017004822.1:c.97414T>G (TTN)	XP_016860311.1:p.Ser32472Ala
XM_017004823.1:c.79030T>G (TTN)	XP_016860312.1:p.Ser26344Ala
XM_024453094.1:c.100525T>G (TTN)	XP_024308862.1:p.Ser33509Ala
XM_024453095.1:c.100522T>G (TTN)	XP_024308863.1:p.Ser33508Ala
XM_024453096.1:c.99955T>G (TTN)	XP_024308864.1:p.Ser33319Ala
XM_024453097.1:c.97297T>G (TTN)	XP_024308865.1:p.Ser32433Ala
XM_024453098.1:c.97216T>G (TTN)	XP_024308866.1:p.Ser32406Ala
XM_024453099.1:c.78979T>G (TTN)	XP_024308867.1:p.Ser26327Ala
XM_024453100.1:c.68833T>G (TTN)	XP_024308868.1:p.Ser22945Ala