Canonical Allele Identifier: CA1996298

Gene: TTN

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178636474G>T , CM000664.2:g.178636474G>T	GRCh38
NC_000002.11:g.179501201G>T , CM000664.1:g.179501201G>T	GRCh37
NC_000002.10:g.179209446G>T	NCBI36
NG_011618.3:g.199329C>A , LRG_391:g.199329C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.41253C>A MANE Select	NP_001254479.2:p.Ser13751=
ENST00000589042.5:c.41253C>A MANE Select	ENSP00000467141.1:p.Ser13751=
NM_001256850.1:c.36330C>A	NP_001243779.1:p.Ser12110=
NM_003319.4:c.14058C>A	NP_003310.4:p.Ser4686=
NM_133378.4:c.33549C>A	NP_596869.4:p.Ser11183=
NM_133432.3:c.14433C>A	NP_597676.3:p.Ser4811=
NM_133437.4:c.14634C>A	NP_597681.4:p.Ser4878=
ENST00000342175.10:c.14634C>A	ENSP00000340554.6:p.Ser4878=
ENST00000342175.11:c.14634C>A	ENSP00000340554.6:p.Ser4878=
ENST00000342992.10:c.33549C>A	ENSP00000343764.6:p.Ser11183=
ENST00000342992.11:c.33549C>A	ENSP00000343764.6:p.Ser11183=
ENST00000359218.10:c.14433C>A	ENSP00000352154.5:p.Ser4811=
ENST00000359218.9:c.14433C>A	ENSP00000352154.5:p.Ser4811=
ENST00000460472.6:c.14058C>A	ENSP00000434586.1:p.Ser4686=
ENST00000591111.5:c.36330C>A	ENSP00000465570.1:p.Ser12110=
ENST00000615779.4:c.36330C>A	ENSP00000483597.1:p.Ser12110=
XM_011511729.1:c.40350C>A	XP_011510031.1:p.Ser13450=
XM_011511730.1:c.14244C>A	XP_011510032.1:p.Ser4748=
XM_011511731.1:c.14103C>A	XP_011510033.1:p.Ser4701=
XM_017004819.1:c.40146C>A	XP_016860308.1:p.Ser13382=
XM_017004820.1:c.35544C>A	XP_016860309.1:p.Ser11848=
XM_017004821.1:c.35541C>A	XP_016860310.1:p.Ser11847=
XM_017004822.1:c.32583C>A	XP_016860311.1:p.Ser10861=
XM_017004823.1:c.14199C>A	XP_016860312.1:p.Ser4733=
XM_024453094.1:c.35694C>A	XP_024308862.1:p.Ser11898=
XM_024453095.1:c.35691C>A	XP_024308863.1:p.Ser11897=
XM_024453096.1:c.35124C>A	XP_024308864.1:p.Ser11708=
XM_024453097.1:c.32466C>A	XP_024308865.1:p.Ser10822=
XM_024453098.1:c.32385C>A	XP_024308866.1:p.Ser10795=
XM_024453099.1:c.14148C>A	XP_024308867.1:p.Ser4716=
XM_024453100.1:c.4002C>A	XP_024308868.1:p.Ser1334=