Canonical Allele Identifier: CA349535629

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178557804-C-A
• MyVariant Identifiers: chr2:g.179422531C>A (hg19) ; chr2:g.178557804C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178557804C>A , CM000664.2:g.178557804C>A	GRCh38
NC_000002.11:g.179422531C>A , CM000664.1:g.179422531C>A	GRCh37
NC_000002.10:g.179130777C>A	NCBI36
NG_011618.3:g.277999G>T , LRG_391:g.277999G>T
NG_051363.1:g.39978C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.79846G>T (TTN)	ENSP00000343764.6:p.Val26616Leu
ENST00000342175.11:c.60931G>T (TTN)	ENSP00000340554.6:p.Val20311Leu
ENST00000359218.10:c.60730G>T (TTN)	ENSP00000352154.5:p.Val20244Leu
ENST00000342175.10:c.60931G>T (TTN)	ENSP00000340554.6:p.Val20311Leu
ENST00000342992.10:c.79846G>T (TTN)	ENSP00000343764.6:p.Val26616Leu
ENST00000359218.9:c.60730G>T (TTN)	ENSP00000352154.5:p.Val20244Leu
ENST00000460472.6:c.60355G>T (TTN)	ENSP00000434586.1:p.Val20119Leu
ENST00000589042.5:c.87550G>T (TTN) MANE Select	ENSP00000467141.1:p.Val29184Leu
ENST00000591111.5:c.82627G>T (TTN)	ENSP00000465570.1:p.Val27543Leu
ENST00000615779.4:c.82627G>T (TTN)	ENSP00000483597.1:p.Val27543Leu
NM_001256850.1:c.82627G>T (TTN)	NP_001243779.1:p.Val27543Leu
NM_001267550.2:c.87550G>T (TTN) MANE Select	NP_001254479.2:p.Val29184Leu
NM_003319.4:c.60355G>T (TTN)	NP_003310.4:p.Val20119Leu
NM_133378.4:c.79846G>T (TTN)	NP_596869.4:p.Val26616Leu
NM_133432.3:c.60730G>T (TTN)	NP_597676.3:p.Val20244Leu
NM_133437.4:c.60931G>T (TTN)	NP_597681.4:p.Val20311Leu
NR_038271.1:n.447-13496C>A (TTN-AS1)
NR_038272.1:n.2043+15443C>A (TTN-AS1)
XM_011511729.1:c.86647G>T (TTN)	XP_011510031.1:p.Val28883Leu
XM_011511730.1:c.60541G>T (TTN)	XP_011510032.1:p.Val20181Leu
XM_011511731.1:c.60400G>T (TTN)	XP_011510033.1:p.Val20134Leu
XM_017004819.1:c.86443G>T (TTN)	XP_016860308.1:p.Val28815Leu
XM_017004820.1:c.81841G>T (TTN)	XP_016860309.1:p.Val27281Leu
XM_017004821.1:c.81838G>T (TTN)	XP_016860310.1:p.Val27280Leu
XM_017004822.1:c.78880G>T (TTN)	XP_016860311.1:p.Val26294Leu
XM_017004823.1:c.60496G>T (TTN)	XP_016860312.1:p.Val20166Leu
XM_024453094.1:c.81991G>T (TTN)	XP_024308862.1:p.Val27331Leu
XM_024453095.1:c.81988G>T (TTN)	XP_024308863.1:p.Val27330Leu
XM_024453096.1:c.81421G>T (TTN)	XP_024308864.1:p.Val27141Leu
XM_024453097.1:c.78763G>T (TTN)	XP_024308865.1:p.Val26255Leu
XM_024453098.1:c.78682G>T (TTN)	XP_024308866.1:p.Val26228Leu
XM_024453099.1:c.60445G>T (TTN)	XP_024308867.1:p.Val20149Leu
XM_024453100.1:c.50299G>T (TTN)	XP_024308868.1:p.Val16767Leu