Canonical Allele Identifier: CA1996328

Gene: TTN

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178636738A>G , CM000664.2:g.178636738A>G	GRCh38
NC_000002.11:g.179501465A>G , CM000664.1:g.179501465A>G	GRCh37
NC_000002.10:g.179209710A>G	NCBI36
NG_011618.3:g.199065T>C , LRG_391:g.199065T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.40989T>C MANE Select	NP_001254479.2:p.Ser13663=
ENST00000589042.5:c.40989T>C MANE Select	ENSP00000467141.1:p.Ser13663=
NM_001256850.1:c.36066T>C	NP_001243779.1:p.Ser12022=
NM_003319.4:c.13794T>C	NP_003310.4:p.Ser4598=
NM_133378.4:c.33285T>C	NP_596869.4:p.Ser11095=
NM_133432.3:c.14169T>C	NP_597676.3:p.Ser4723=
NM_133437.4:c.14370T>C	NP_597681.4:p.Ser4790=
ENST00000342175.10:c.14370T>C	ENSP00000340554.6:p.Ser4790=
ENST00000342175.11:c.14370T>C	ENSP00000340554.6:p.Ser4790=
ENST00000342992.10:c.33285T>C	ENSP00000343764.6:p.Ser11095=
ENST00000342992.11:c.33285T>C	ENSP00000343764.6:p.Ser11095=
ENST00000359218.10:c.14169T>C	ENSP00000352154.5:p.Ser4723=
ENST00000359218.9:c.14169T>C	ENSP00000352154.5:p.Ser4723=
ENST00000460472.6:c.13794T>C	ENSP00000434586.1:p.Ser4598=
ENST00000591111.5:c.36066T>C	ENSP00000465570.1:p.Ser12022=
ENST00000615779.4:c.36066T>C	ENSP00000483597.1:p.Ser12022=
XM_011511729.1:c.40086T>C	XP_011510031.1:p.Ser13362=
XM_011511730.1:c.13980T>C	XP_011510032.1:p.Ser4660=
XM_011511731.1:c.13839T>C	XP_011510033.1:p.Ser4613=
XM_017004819.1:c.39882T>C	XP_016860308.1:p.Ser13294=
XM_017004820.1:c.35280T>C	XP_016860309.1:p.Ser11760=
XM_017004821.1:c.35277T>C	XP_016860310.1:p.Ser11759=
XM_017004822.1:c.32319T>C	XP_016860311.1:p.Ser10773=
XM_017004823.1:c.13935T>C	XP_016860312.1:p.Ser4645=
XM_024453094.1:c.35430T>C	XP_024308862.1:p.Ser11810=
XM_024453095.1:c.35427T>C	XP_024308863.1:p.Ser11809=
XM_024453096.1:c.34860T>C	XP_024308864.1:p.Ser11620=
XM_024453097.1:c.32202T>C	XP_024308865.1:p.Ser10734=
XM_024453098.1:c.32121T>C	XP_024308866.1:p.Ser10707=
XM_024453099.1:c.13884T>C	XP_024308867.1:p.Ser4628=
XM_024453100.1:c.3738T>C	XP_024308868.1:p.Ser1246=