Canonical Allele Identifier: CA349535616

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178557803-A-G
• MyVariant Identifiers: chr2:g.179422530A>G (hg19) ; chr2:g.178557803A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178557803A>G , CM000664.2:g.178557803A>G	GRCh38
NC_000002.11:g.179422530A>G , CM000664.1:g.179422530A>G	GRCh37
NC_000002.10:g.179130776A>G	NCBI36
NG_011618.3:g.278000T>C , LRG_391:g.278000T>C
NG_051363.1:g.39977A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.79847T>C (TTN)	ENSP00000343764.6:p.Val26616Ala
ENST00000342175.11:c.60932T>C (TTN)	ENSP00000340554.6:p.Val20311Ala
ENST00000359218.10:c.60731T>C (TTN)	ENSP00000352154.5:p.Val20244Ala
ENST00000342175.10:c.60932T>C (TTN)	ENSP00000340554.6:p.Val20311Ala
ENST00000342992.10:c.79847T>C (TTN)	ENSP00000343764.6:p.Val26616Ala
ENST00000359218.9:c.60731T>C (TTN)	ENSP00000352154.5:p.Val20244Ala
ENST00000460472.6:c.60356T>C (TTN)	ENSP00000434586.1:p.Val20119Ala
ENST00000589042.5:c.87551T>C (TTN) MANE Select	ENSP00000467141.1:p.Val29184Ala
ENST00000591111.5:c.82628T>C (TTN)	ENSP00000465570.1:p.Val27543Ala
ENST00000615779.4:c.82628T>C (TTN)	ENSP00000483597.1:p.Val27543Ala
NM_001256850.1:c.82628T>C (TTN)	NP_001243779.1:p.Val27543Ala
NM_001267550.2:c.87551T>C (TTN) MANE Select	NP_001254479.2:p.Val29184Ala
NM_003319.4:c.60356T>C (TTN)	NP_003310.4:p.Val20119Ala
NM_133378.4:c.79847T>C (TTN)	NP_596869.4:p.Val26616Ala
NM_133432.3:c.60731T>C (TTN)	NP_597676.3:p.Val20244Ala
NM_133437.4:c.60932T>C (TTN)	NP_597681.4:p.Val20311Ala
NR_038271.1:n.447-13497A>G (TTN-AS1)
NR_038272.1:n.2043+15442A>G (TTN-AS1)
XM_011511729.1:c.86648T>C (TTN)	XP_011510031.1:p.Val28883Ala
XM_011511730.1:c.60542T>C (TTN)	XP_011510032.1:p.Val20181Ala
XM_011511731.1:c.60401T>C (TTN)	XP_011510033.1:p.Val20134Ala
XM_017004819.1:c.86444T>C (TTN)	XP_016860308.1:p.Val28815Ala
XM_017004820.1:c.81842T>C (TTN)	XP_016860309.1:p.Val27281Ala
XM_017004821.1:c.81839T>C (TTN)	XP_016860310.1:p.Val27280Ala
XM_017004822.1:c.78881T>C (TTN)	XP_016860311.1:p.Val26294Ala
XM_017004823.1:c.60497T>C (TTN)	XP_016860312.1:p.Val20166Ala
XM_024453094.1:c.81992T>C (TTN)	XP_024308862.1:p.Val27331Ala
XM_024453095.1:c.81989T>C (TTN)	XP_024308863.1:p.Val27330Ala
XM_024453096.1:c.81422T>C (TTN)	XP_024308864.1:p.Val27141Ala
XM_024453097.1:c.78764T>C (TTN)	XP_024308865.1:p.Val26255Ala
XM_024453098.1:c.78683T>C (TTN)	XP_024308866.1:p.Val26228Ala
XM_024453099.1:c.60446T>C (TTN)	XP_024308867.1:p.Val20149Ala
XM_024453100.1:c.50300T>C (TTN)	XP_024308868.1:p.Val16767Ala