Canonical Allele Identifier: CA349488521

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM3572017 ; COSM3572018 ; COSM3572019 ; COSM3572020
• MyVariant Identifiers: chr2:g.179456617G>A (hg19) ; chr2:g.178591890G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591890G>A , CM000664.2:g.178591890G>A	GRCh38
NC_000002.11:g.179456617G>A , CM000664.1:g.179456617G>A	GRCh37
NC_000002.10:g.179164863G>A	NCBI36
NG_011618.3:g.243913C>T , LRG_391:g.243913C>T
NG_051363.1:g.74064G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.52225C>T (TTN)	ENSP00000343764.6:p.Pro17409Ser
ENST00000342175.11:c.33310C>T (TTN)	ENSP00000340554.6:p.Pro11104Ser
ENST00000359218.10:c.33109C>T (TTN)	ENSP00000352154.5:p.Pro11037Ser
ENST00000342175.10:c.33310C>T (TTN)	ENSP00000340554.6:p.Pro11104Ser
ENST00000342992.10:c.52225C>T (TTN)	ENSP00000343764.6:p.Pro17409Ser
ENST00000359218.9:c.33109C>T (TTN)	ENSP00000352154.5:p.Pro11037Ser
ENST00000460472.6:c.32734C>T (TTN)	ENSP00000434586.1:p.Pro10912Ser
ENST00000589042.5:c.59929C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro19977Ser
ENST00000591111.5:c.55006C>T (TTN)	ENSP00000465570.1:p.Pro18336Ser
ENST00000615779.4:c.55006C>T (TTN)	ENSP00000483597.1:p.Pro18336Ser
NM_001256850.1:c.55006C>T (TTN)	NP_001243779.1:p.Pro18336Ser
NM_001267550.2:c.59929C>T (TTN) MANE Select	NP_001254479.2:p.Pro19977Ser
NM_003319.4:c.32734C>T (TTN)	NP_003310.4:p.Pro10912Ser
NM_133378.4:c.52225C>T (TTN)	NP_596869.4:p.Pro17409Ser
NM_133432.3:c.33109C>T (TTN)	NP_597676.3:p.Pro11037Ser
NM_133437.4:c.33310C>T (TTN)	NP_597681.4:p.Pro11104Ser
NR_038271.1:n.597-5706G>A (TTN-AS1)
NR_038272.1:n.3364+576G>A (TTN-AS1)
XM_011511729.1:c.59026C>T (TTN)	XP_011510031.1:p.Pro19676Ser
XM_011511730.1:c.32920C>T (TTN)	XP_011510032.1:p.Pro10974Ser
XM_011511731.1:c.32779C>T (TTN)	XP_011510033.1:p.Pro10927Ser
XM_017004819.1:c.58822C>T (TTN)	XP_016860308.1:p.Pro19608Ser
XM_017004820.1:c.54220C>T (TTN)	XP_016860309.1:p.Pro18074Ser
XM_017004821.1:c.54217C>T (TTN)	XP_016860310.1:p.Pro18073Ser
XM_017004822.1:c.51259C>T (TTN)	XP_016860311.1:p.Pro17087Ser
XM_017004823.1:c.32875C>T (TTN)	XP_016860312.1:p.Pro10959Ser
XM_024453094.1:c.54370C>T (TTN)	XP_024308862.1:p.Pro18124Ser
XM_024453095.1:c.54367C>T (TTN)	XP_024308863.1:p.Pro18123Ser
XM_024453096.1:c.53800C>T (TTN)	XP_024308864.1:p.Pro17934Ser
XM_024453097.1:c.51142C>T (TTN)	XP_024308865.1:p.Pro17048Ser
XM_024453098.1:c.51061C>T (TTN)	XP_024308866.1:p.Pro17021Ser
XM_024453099.1:c.32824C>T (TTN)	XP_024308867.1:p.Pro10942Ser
XM_024453100.1:c.22678C>T (TTN)	XP_024308868.1:p.Pro7560Ser