Canonical Allele Identifier: CA349672175

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179442726A>C (hg19) ; chr2:g.178577999A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178577999A>C , CM000664.2:g.178577999A>C	GRCh38
NC_000002.11:g.179442726A>C , CM000664.1:g.179442726A>C	GRCh37
NC_000002.10:g.179150972A>C	NCBI36
NG_011618.3:g.257804T>G , LRG_391:g.257804T>G
NG_051363.1:g.60173A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.60812T>G (TTN)	ENSP00000343764.6:p.Leu20271Arg
ENST00000342175.11:c.41897T>G (TTN)	ENSP00000340554.6:p.Leu13966Arg
ENST00000359218.10:c.41696T>G (TTN)	ENSP00000352154.5:p.Leu13899Arg
ENST00000342175.10:c.41897T>G (TTN)	ENSP00000340554.6:p.Leu13966Arg
ENST00000342992.10:c.60812T>G (TTN)	ENSP00000343764.6:p.Leu20271Arg
ENST00000359218.9:c.41696T>G (TTN)	ENSP00000352154.5:p.Leu13899Arg
ENST00000460472.6:c.41321T>G (TTN)	ENSP00000434586.1:p.Leu13774Arg
ENST00000589042.5:c.68516T>G (TTN) MANE Select	ENSP00000467141.1:p.Leu22839Arg
ENST00000591111.5:c.63593T>G (TTN)	ENSP00000465570.1:p.Leu21198Arg
ENST00000615779.4:c.63593T>G (TTN)	ENSP00000483597.1:p.Leu21198Arg
NM_001256850.1:c.63593T>G (TTN)	NP_001243779.1:p.Leu21198Arg
NM_001267550.2:c.68516T>G (TTN) MANE Select	NP_001254479.2:p.Leu22839Arg
NM_003319.4:c.41321T>G (TTN)	NP_003310.4:p.Leu13774Arg
NM_133378.4:c.60812T>G (TTN)	NP_596869.4:p.Leu20271Arg
NM_133432.3:c.41696T>G (TTN)	NP_597676.3:p.Leu13899Arg
NM_133437.4:c.41897T>G (TTN)	NP_597681.4:p.Leu13966Arg
NR_038271.1:n.596+6550A>C (TTN-AS1)
NR_038272.1:n.2044-4573A>C (TTN-AS1)
XM_011511729.1:c.67613T>G (TTN)	XP_011510031.1:p.Leu22538Arg
XM_011511730.1:c.41507T>G (TTN)	XP_011510032.1:p.Leu13836Arg
XM_011511731.1:c.41366T>G (TTN)	XP_011510033.1:p.Leu13789Arg
XM_017004819.1:c.67409T>G (TTN)	XP_016860308.1:p.Leu22470Arg
XM_017004820.1:c.62807T>G (TTN)	XP_016860309.1:p.Leu20936Arg
XM_017004821.1:c.62804T>G (TTN)	XP_016860310.1:p.Leu20935Arg
XM_017004822.1:c.59846T>G (TTN)	XP_016860311.1:p.Leu19949Arg
XM_017004823.1:c.41462T>G (TTN)	XP_016860312.1:p.Leu13821Arg
XM_024453094.1:c.62957T>G (TTN)	XP_024308862.1:p.Leu20986Arg
XM_024453095.1:c.62954T>G (TTN)	XP_024308863.1:p.Leu20985Arg
XM_024453096.1:c.62387T>G (TTN)	XP_024308864.1:p.Leu20796Arg
XM_024453097.1:c.59729T>G (TTN)	XP_024308865.1:p.Leu19910Arg
XM_024453098.1:c.59648T>G (TTN)	XP_024308866.1:p.Leu19883Arg
XM_024453099.1:c.41411T>G (TTN)	XP_024308867.1:p.Leu13804Arg
XM_024453100.1:c.31265T>G (TTN)	XP_024308868.1:p.Leu10422Arg