Canonical Allele Identifier: CA349467378

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178546300-G-T
• MyVariant Identifiers: chr2:g.179411027G>T (hg19) ; chr2:g.178546300G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546300G>T , CM000664.2:g.178546300G>T	GRCh38
NC_000002.11:g.179411027G>T , CM000664.1:g.179411027G>T	GRCh37
NC_000002.10:g.179119273G>T	NCBI36
NG_011618.3:g.289503C>A , LRG_391:g.289503C>A
NG_051363.1:g.28474G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.87327C>A (TTN)	ENSP00000343764.6:p.Phe29109Leu
ENST00000342175.11:c.68412C>A (TTN)	ENSP00000340554.6:p.Phe22804Leu
ENST00000359218.10:c.68211C>A (TTN)	ENSP00000352154.5:p.Phe22737Leu
ENST00000342175.10:c.68412C>A (TTN)	ENSP00000340554.6:p.Phe22804Leu
ENST00000342992.10:c.87327C>A (TTN)	ENSP00000343764.6:p.Phe29109Leu
ENST00000359218.9:c.68211C>A (TTN)	ENSP00000352154.5:p.Phe22737Leu
ENST00000460472.6:c.67836C>A (TTN)	ENSP00000434586.1:p.Phe22612Leu
ENST00000589042.5:c.95031C>A (TTN) MANE Select	ENSP00000467141.1:p.Phe31677Leu
ENST00000591111.5:c.90108C>A (TTN)	ENSP00000465570.1:p.Phe30036Leu
ENST00000615779.4:c.90108C>A (TTN)	ENSP00000483597.1:p.Phe30036Leu
NM_001256850.1:c.90108C>A (TTN)	NP_001243779.1:p.Phe30036Leu
NM_001267550.2:c.95031C>A (TTN) MANE Select	NP_001254479.2:p.Phe31677Leu
NM_003319.4:c.67836C>A (TTN)	NP_003310.4:p.Phe22612Leu
NM_133378.4:c.87327C>A (TTN)	NP_596869.4:p.Phe29109Leu
NM_133432.3:c.68211C>A (TTN)	NP_597676.3:p.Phe22737Leu
NM_133437.4:c.68412C>A (TTN)	NP_597681.4:p.Phe22804Leu
NR_038271.1:n.446+22664G>T (TTN-AS1)
NR_038272.1:n.2043+3939G>T (TTN-AS1)
XM_011511729.1:c.94128C>A (TTN)	XP_011510031.1:p.Phe31376Leu
XM_011511730.1:c.68022C>A (TTN)	XP_011510032.1:p.Phe22674Leu
XM_011511731.1:c.67881C>A (TTN)	XP_011510033.1:p.Phe22627Leu
XM_017004819.1:c.93924C>A (TTN)	XP_016860308.1:p.Phe31308Leu
XM_017004820.1:c.89322C>A (TTN)	XP_016860309.1:p.Phe29774Leu
XM_017004821.1:c.89319C>A (TTN)	XP_016860310.1:p.Phe29773Leu
XM_017004822.1:c.86361C>A (TTN)	XP_016860311.1:p.Phe28787Leu
XM_017004823.1:c.67977C>A (TTN)	XP_016860312.1:p.Phe22659Leu
XM_024453094.1:c.89472C>A (TTN)	XP_024308862.1:p.Phe29824Leu
XM_024453095.1:c.89469C>A (TTN)	XP_024308863.1:p.Phe29823Leu
XM_024453096.1:c.88902C>A (TTN)	XP_024308864.1:p.Phe29634Leu
XM_024453097.1:c.86244C>A (TTN)	XP_024308865.1:p.Phe28748Leu
XM_024453098.1:c.86163C>A (TTN)	XP_024308866.1:p.Phe28721Leu
XM_024453099.1:c.67926C>A (TTN)	XP_024308867.1:p.Phe22642Leu
XM_024453100.1:c.57780C>A (TTN)	XP_024308868.1:p.Phe19260Leu