Canonical Allele Identifier: CA349455676

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179409000C>A (hg19) ; chr2:g.178544273C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544273C>A , CM000664.2:g.178544273C>A	GRCh38
NC_000002.11:g.179409000C>A , CM000664.1:g.179409000C>A	GRCh37
NC_000002.10:g.179117246C>A	NCBI36
NG_011618.3:g.291530G>T , LRG_391:g.291530G>T
NG_051363.1:g.26447C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88252G>T (TTN)	ENSP00000343764.6:p.Ala29418Ser
ENST00000342175.11:c.69337G>T (TTN)	ENSP00000340554.6:p.Ala23113Ser
ENST00000359218.10:c.69136G>T (TTN)	ENSP00000352154.5:p.Ala23046Ser
ENST00000342175.10:c.69337G>T (TTN)	ENSP00000340554.6:p.Ala23113Ser
ENST00000342992.10:c.88252G>T (TTN)	ENSP00000343764.6:p.Ala29418Ser
ENST00000359218.9:c.69136G>T (TTN)	ENSP00000352154.5:p.Ala23046Ser
ENST00000460472.6:c.68761G>T (TTN)	ENSP00000434586.1:p.Ala22921Ser
ENST00000589042.5:c.95956G>T (TTN) MANE Select	ENSP00000467141.1:p.Ala31986Ser
ENST00000591111.5:c.91033G>T (TTN)	ENSP00000465570.1:p.Ala30345Ser
ENST00000615779.4:c.91033G>T (TTN)	ENSP00000483597.1:p.Ala30345Ser
NM_001256850.1:c.91033G>T (TTN)	NP_001243779.1:p.Ala30345Ser
NM_001267550.2:c.95956G>T (TTN) MANE Select	NP_001254479.2:p.Ala31986Ser
NM_003319.4:c.68761G>T (TTN)	NP_003310.4:p.Ala22921Ser
NM_133378.4:c.88252G>T (TTN)	NP_596869.4:p.Ala29418Ser
NM_133432.3:c.69136G>T (TTN)	NP_597676.3:p.Ala23046Ser
NM_133437.4:c.69337G>T (TTN)	NP_597681.4:p.Ala23113Ser
NR_038271.1:n.446+20637C>A (TTN-AS1)
NR_038272.1:n.2043+1912C>A (TTN-AS1)
XM_011511729.1:c.95053G>T (TTN)	XP_011510031.1:p.Ala31685Ser
XM_011511730.1:c.68947G>T (TTN)	XP_011510032.1:p.Ala22983Ser
XM_011511731.1:c.68806G>T (TTN)	XP_011510033.1:p.Ala22936Ser
XM_017004819.1:c.94849G>T (TTN)	XP_016860308.1:p.Ala31617Ser
XM_017004820.1:c.90247G>T (TTN)	XP_016860309.1:p.Ala30083Ser
XM_017004821.1:c.90244G>T (TTN)	XP_016860310.1:p.Ala30082Ser
XM_017004822.1:c.87286G>T (TTN)	XP_016860311.1:p.Ala29096Ser
XM_017004823.1:c.68902G>T (TTN)	XP_016860312.1:p.Ala22968Ser
XM_024453094.1:c.90397G>T (TTN)	XP_024308862.1:p.Ala30133Ser
XM_024453095.1:c.90394G>T (TTN)	XP_024308863.1:p.Ala30132Ser
XM_024453096.1:c.89827G>T (TTN)	XP_024308864.1:p.Ala29943Ser
XM_024453097.1:c.87169G>T (TTN)	XP_024308865.1:p.Ala29057Ser
XM_024453098.1:c.87088G>T (TTN)	XP_024308866.1:p.Ala29030Ser
XM_024453099.1:c.68851G>T (TTN)	XP_024308867.1:p.Ala22951Ser
XM_024453100.1:c.58705G>T (TTN)	XP_024308868.1:p.Ala19569Ser