Canonical Allele Identifier: CA1992725

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs761200418
• ExAC: 2:179457805 G / A
• MyVariant Identifiers: chr2:g.179457805G>A (hg19) ; chr2:g.178593078G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593078G>A , CM000664.2:g.178593078G>A	GRCh38
NC_000002.11:g.179457805G>A , CM000664.1:g.179457805G>A	GRCh37
NC_000002.10:g.179166051G>A	NCBI36
NG_011618.3:g.242725C>T , LRG_391:g.242725C>T
NG_051363.1:g.75252G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51337C>T (TTN)	ENSP00000343764.6:p.Pro17113Ser
ENST00000342175.11:c.32422C>T (TTN)	ENSP00000340554.6:p.Pro10808Ser
ENST00000359218.10:c.32221C>T (TTN)	ENSP00000352154.5:p.Pro10741Ser
ENST00000342175.10:c.32422C>T (TTN)	ENSP00000340554.6:p.Pro10808Ser
ENST00000342992.10:c.51337C>T (TTN)	ENSP00000343764.6:p.Pro17113Ser
ENST00000359218.9:c.32221C>T (TTN)	ENSP00000352154.5:p.Pro10741Ser
ENST00000460472.6:c.31846C>T (TTN)	ENSP00000434586.1:p.Pro10616Ser
ENST00000589042.5:c.59041C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro19681Ser
ENST00000591111.5:c.54118C>T (TTN)	ENSP00000465570.1:p.Pro18040Ser
ENST00000615779.4:c.54118C>T (TTN)	ENSP00000483597.1:p.Pro18040Ser
NM_001256850.1:c.54118C>T (TTN)	NP_001243779.1:p.Pro18040Ser
NM_001267550.2:c.59041C>T (TTN) MANE Select	NP_001254479.2:p.Pro19681Ser
NM_003319.4:c.31846C>T (TTN)	NP_003310.4:p.Pro10616Ser
NM_133378.4:c.51337C>T (TTN)	NP_596869.4:p.Pro17113Ser
NM_133432.3:c.32221C>T (TTN)	NP_597676.3:p.Pro10741Ser
NM_133437.4:c.32422C>T (TTN)	NP_597681.4:p.Pro10808Ser
NR_038271.1:n.597-4518G>A (TTN-AS1)
NR_038272.1:n.3364+1764G>A (TTN-AS1)
XM_011511729.1:c.58138C>T (TTN)	XP_011510031.1:p.Pro19380Ser
XM_011511730.1:c.32032C>T (TTN)	XP_011510032.1:p.Pro10678Ser
XM_011511731.1:c.31891C>T (TTN)	XP_011510033.1:p.Pro10631Ser
XM_017004819.1:c.57934C>T (TTN)	XP_016860308.1:p.Pro19312Ser
XM_017004820.1:c.53332C>T (TTN)	XP_016860309.1:p.Pro17778Ser
XM_017004821.1:c.53329C>T (TTN)	XP_016860310.1:p.Pro17777Ser
XM_017004822.1:c.50371C>T (TTN)	XP_016860311.1:p.Pro16791Ser
XM_017004823.1:c.31987C>T (TTN)	XP_016860312.1:p.Pro10663Ser
XM_024453094.1:c.53482C>T (TTN)	XP_024308862.1:p.Pro17828Ser
XM_024453095.1:c.53479C>T (TTN)	XP_024308863.1:p.Pro17827Ser
XM_024453096.1:c.52912C>T (TTN)	XP_024308864.1:p.Pro17638Ser
XM_024453097.1:c.50254C>T (TTN)	XP_024308865.1:p.Pro16752Ser
XM_024453098.1:c.50173C>T (TTN)	XP_024308866.1:p.Pro16725Ser
XM_024453099.1:c.31936C>T (TTN)	XP_024308867.1:p.Pro10646Ser
XM_024453100.1:c.21790C>T (TTN)	XP_024308868.1:p.Pro7264Ser