Canonical Allele Identifier: CA349621897

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179483415G>A (hg19) ; chr2:g.178618688G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618688G>A , CM000664.2:g.178618688G>A	GRCh38
NC_000002.11:g.179483415G>A , CM000664.1:g.179483415G>A	GRCh37
NC_000002.10:g.179191660G>A	NCBI36
NG_011618.3:g.217115C>T , LRG_391:g.217115C>T
NG_051363.1:g.100862G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39158C>T (TTN)	ENSP00000343764.6:p.Ser13053Phe
ENST00000342175.11:c.20243C>T (TTN)	ENSP00000340554.6:p.Ser6748Phe
ENST00000359218.10:c.20042C>T (TTN)	ENSP00000352154.5:p.Ser6681Phe
ENST00000342175.10:c.20243C>T (TTN)	ENSP00000340554.6:p.Ser6748Phe
ENST00000342992.10:c.39158C>T (TTN)	ENSP00000343764.6:p.Ser13053Phe
ENST00000359218.9:c.20042C>T (TTN)	ENSP00000352154.5:p.Ser6681Phe
ENST00000460472.6:c.19667C>T (TTN)	ENSP00000434586.1:p.Ser6556Phe
ENST00000589042.5:c.46862C>T (TTN) MANE Select	ENSP00000467141.1:p.Ser15621Phe
ENST00000591111.5:c.41939C>T (TTN)	ENSP00000465570.1:p.Ser13980Phe
ENST00000615779.4:c.41939C>T (TTN)	ENSP00000483597.1:p.Ser13980Phe
NM_001256850.1:c.41939C>T (TTN)	NP_001243779.1:p.Ser13980Phe
NM_001267550.2:c.46862C>T (TTN) MANE Select	NP_001254479.2:p.Ser15621Phe
NM_003319.4:c.19667C>T (TTN)	NP_003310.4:p.Ser6556Phe
NM_133378.4:c.39158C>T (TTN)	NP_596869.4:p.Ser13053Phe
NM_133432.3:c.20042C>T (TTN)	NP_597676.3:p.Ser6681Phe
NM_133437.4:c.20243C>T (TTN)	NP_597681.4:p.Ser6748Phe
NR_038271.1:n.1605-1065G>A (TTN-AS1)
XM_011511729.1:c.45959C>T (TTN)	XP_011510031.1:p.Ser15320Phe
XM_011511730.1:c.19853C>T (TTN)	XP_011510032.1:p.Ser6618Phe
XM_011511731.1:c.19712C>T (TTN)	XP_011510033.1:p.Ser6571Phe
XM_017004819.1:c.45755C>T (TTN)	XP_016860308.1:p.Ser15252Phe
XM_017004820.1:c.41153C>T (TTN)	XP_016860309.1:p.Ser13718Phe
XM_017004821.1:c.41150C>T (TTN)	XP_016860310.1:p.Ser13717Phe
XM_017004822.1:c.38192C>T (TTN)	XP_016860311.1:p.Ser12731Phe
XM_017004823.1:c.19808C>T (TTN)	XP_016860312.1:p.Ser6603Phe
XM_024453094.1:c.41303C>T (TTN)	XP_024308862.1:p.Ser13768Phe
XM_024453095.1:c.41300C>T (TTN)	XP_024308863.1:p.Ser13767Phe
XM_024453096.1:c.40733C>T (TTN)	XP_024308864.1:p.Ser13578Phe
XM_024453097.1:c.38075C>T (TTN)	XP_024308865.1:p.Ser12692Phe
XM_024453098.1:c.37994C>T (TTN)	XP_024308866.1:p.Ser12665Phe
XM_024453099.1:c.19757C>T (TTN)	XP_024308867.1:p.Ser6586Phe
XM_024453100.1:c.9611C>T (TTN)	XP_024308868.1:p.Ser3204Phe