Canonical Allele Identifier: CA349618625

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179482921T>G (hg19) ; chr2:g.178618194T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618194T>G , CM000664.2:g.178618194T>G	GRCh38
NC_000002.11:g.179482921T>G , CM000664.1:g.179482921T>G	GRCh37
NC_000002.10:g.179191166T>G	NCBI36
NG_011618.3:g.217609A>C , LRG_391:g.217609A>C
NG_051363.1:g.100368T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39560A>C (TTN)	ENSP00000343764.6:p.Lys13187Thr
ENST00000342175.11:c.20645A>C (TTN)	ENSP00000340554.6:p.Lys6882Thr
ENST00000359218.10:c.20444A>C (TTN)	ENSP00000352154.5:p.Lys6815Thr
ENST00000342175.10:c.20645A>C (TTN)	ENSP00000340554.6:p.Lys6882Thr
ENST00000342992.10:c.39560A>C (TTN)	ENSP00000343764.6:p.Lys13187Thr
ENST00000359218.9:c.20444A>C (TTN)	ENSP00000352154.5:p.Lys6815Thr
ENST00000460472.6:c.20069A>C (TTN)	ENSP00000434586.1:p.Lys6690Thr
ENST00000589042.5:c.47264A>C (TTN) MANE Select	ENSP00000467141.1:p.Lys15755Thr
ENST00000591111.5:c.42341A>C (TTN)	ENSP00000465570.1:p.Lys14114Thr
ENST00000615779.4:c.42341A>C (TTN)	ENSP00000483597.1:p.Lys14114Thr
NM_001256850.1:c.42341A>C (TTN)	NP_001243779.1:p.Lys14114Thr
NM_001267550.2:c.47264A>C (TTN) MANE Select	NP_001254479.2:p.Lys15755Thr
NM_003319.4:c.20069A>C (TTN)	NP_003310.4:p.Lys6690Thr
NM_133378.4:c.39560A>C (TTN)	NP_596869.4:p.Lys13187Thr
NM_133432.3:c.20444A>C (TTN)	NP_597676.3:p.Lys6815Thr
NM_133437.4:c.20645A>C (TTN)	NP_597681.4:p.Lys6882Thr
NR_038271.1:n.1605-1559T>G (TTN-AS1)
XM_011511729.1:c.46361A>C (TTN)	XP_011510031.1:p.Lys15454Thr
XM_011511730.1:c.20255A>C (TTN)	XP_011510032.1:p.Lys6752Thr
XM_011511731.1:c.20114A>C (TTN)	XP_011510033.1:p.Lys6705Thr
XM_017004819.1:c.46157A>C (TTN)	XP_016860308.1:p.Lys15386Thr
XM_017004820.1:c.41555A>C (TTN)	XP_016860309.1:p.Lys13852Thr
XM_017004821.1:c.41552A>C (TTN)	XP_016860310.1:p.Lys13851Thr
XM_017004822.1:c.38594A>C (TTN)	XP_016860311.1:p.Lys12865Thr
XM_017004823.1:c.20210A>C (TTN)	XP_016860312.1:p.Lys6737Thr
XM_024453094.1:c.41705A>C (TTN)	XP_024308862.1:p.Lys13902Thr
XM_024453095.1:c.41702A>C (TTN)	XP_024308863.1:p.Lys13901Thr
XM_024453096.1:c.41135A>C (TTN)	XP_024308864.1:p.Lys13712Thr
XM_024453097.1:c.38477A>C (TTN)	XP_024308865.1:p.Lys12826Thr
XM_024453098.1:c.38396A>C (TTN)	XP_024308866.1:p.Lys12799Thr
XM_024453099.1:c.20159A>C (TTN)	XP_024308867.1:p.Lys6720Thr
XM_024453100.1:c.10013A>C (TTN)	XP_024308868.1:p.Lys3338Thr