Canonical Allele Identifier: CA349535612

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178557801-A-C
• MyVariant Identifiers: chr2:g.179422528A>C (hg19) ; chr2:g.178557801A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178557801A>C , CM000664.2:g.178557801A>C	GRCh38
NC_000002.11:g.179422528A>C , CM000664.1:g.179422528A>C	GRCh37
NC_000002.10:g.179130774A>C	NCBI36
NG_011618.3:g.278002T>G , LRG_391:g.278002T>G
NG_051363.1:g.39975A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.79849T>G (TTN)	ENSP00000343764.6:p.Trp26617Gly
ENST00000342175.11:c.60934T>G (TTN)	ENSP00000340554.6:p.Trp20312Gly
ENST00000359218.10:c.60733T>G (TTN)	ENSP00000352154.5:p.Trp20245Gly
ENST00000342175.10:c.60934T>G (TTN)	ENSP00000340554.6:p.Trp20312Gly
ENST00000342992.10:c.79849T>G (TTN)	ENSP00000343764.6:p.Trp26617Gly
ENST00000359218.9:c.60733T>G (TTN)	ENSP00000352154.5:p.Trp20245Gly
ENST00000460472.6:c.60358T>G (TTN)	ENSP00000434586.1:p.Trp20120Gly
ENST00000589042.5:c.87553T>G (TTN) MANE Select	ENSP00000467141.1:p.Trp29185Gly
ENST00000591111.5:c.82630T>G (TTN)	ENSP00000465570.1:p.Trp27544Gly
ENST00000615779.4:c.82630T>G (TTN)	ENSP00000483597.1:p.Trp27544Gly
NM_001256850.1:c.82630T>G (TTN)	NP_001243779.1:p.Trp27544Gly
NM_001267550.2:c.87553T>G (TTN) MANE Select	NP_001254479.2:p.Trp29185Gly
NM_003319.4:c.60358T>G (TTN)	NP_003310.4:p.Trp20120Gly
NM_133378.4:c.79849T>G (TTN)	NP_596869.4:p.Trp26617Gly
NM_133432.3:c.60733T>G (TTN)	NP_597676.3:p.Trp20245Gly
NM_133437.4:c.60934T>G (TTN)	NP_597681.4:p.Trp20312Gly
NR_038271.1:n.447-13499A>C (TTN-AS1)
NR_038272.1:n.2043+15440A>C (TTN-AS1)
XM_011511729.1:c.86650T>G (TTN)	XP_011510031.1:p.Trp28884Gly
XM_011511730.1:c.60544T>G (TTN)	XP_011510032.1:p.Trp20182Gly
XM_011511731.1:c.60403T>G (TTN)	XP_011510033.1:p.Trp20135Gly
XM_017004819.1:c.86446T>G (TTN)	XP_016860308.1:p.Trp28816Gly
XM_017004820.1:c.81844T>G (TTN)	XP_016860309.1:p.Trp27282Gly
XM_017004821.1:c.81841T>G (TTN)	XP_016860310.1:p.Trp27281Gly
XM_017004822.1:c.78883T>G (TTN)	XP_016860311.1:p.Trp26295Gly
XM_017004823.1:c.60499T>G (TTN)	XP_016860312.1:p.Trp20167Gly
XM_024453094.1:c.81994T>G (TTN)	XP_024308862.1:p.Trp27332Gly
XM_024453095.1:c.81991T>G (TTN)	XP_024308863.1:p.Trp27331Gly
XM_024453096.1:c.81424T>G (TTN)	XP_024308864.1:p.Trp27142Gly
XM_024453097.1:c.78766T>G (TTN)	XP_024308865.1:p.Trp26256Gly
XM_024453098.1:c.78685T>G (TTN)	XP_024308866.1:p.Trp26229Gly
XM_024453099.1:c.60448T>G (TTN)	XP_024308867.1:p.Trp20150Gly
XM_024453100.1:c.50302T>G (TTN)	XP_024308868.1:p.Trp16768Gly