Canonical Allele Identifier: CA1996042

Gene: TTN

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178633886A>G , CM000664.2:g.178633886A>G	GRCh38
NC_000002.11:g.179498613A>G , CM000664.1:g.179498613A>G	GRCh37
NC_000002.10:g.179206858A>G	NCBI36
NG_011618.3:g.201917T>C , LRG_391:g.201917T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.42613T>C MANE Select	NP_001254479.2:p.Leu14205=
ENST00000589042.5:c.42613T>C MANE Select	ENSP00000467141.1:p.Leu14205=
NM_001256850.1:c.37690T>C	NP_001243779.1:p.Leu12564=
NM_003319.4:c.15418T>C	NP_003310.4:p.Leu5140=
NM_133378.4:c.34909T>C	NP_596869.4:p.Leu11637=
NM_133432.3:c.15793T>C	NP_597676.3:p.Leu5265=
NM_133437.4:c.15994T>C	NP_597681.4:p.Leu5332=
ENST00000342175.10:c.15994T>C	ENSP00000340554.6:p.Leu5332=
ENST00000342175.11:c.15994T>C	ENSP00000340554.6:p.Leu5332=
ENST00000342992.10:c.34909T>C	ENSP00000343764.6:p.Leu11637=
ENST00000342992.11:c.34909T>C	ENSP00000343764.6:p.Leu11637=
ENST00000359218.10:c.15793T>C	ENSP00000352154.5:p.Leu5265=
ENST00000359218.9:c.15793T>C	ENSP00000352154.5:p.Leu5265=
ENST00000460472.6:c.15418T>C	ENSP00000434586.1:p.Leu5140=
ENST00000591111.5:c.37690T>C	ENSP00000465570.1:p.Leu12564=
ENST00000615779.4:c.37690T>C	ENSP00000483597.1:p.Leu12564=
XM_011511729.1:c.41710T>C	XP_011510031.1:p.Leu13904=
XM_011511730.1:c.15604T>C	XP_011510032.1:p.Leu5202=
XM_011511731.1:c.15463T>C	XP_011510033.1:p.Leu5155=
XM_017004819.1:c.41506T>C	XP_016860308.1:p.Leu13836=
XM_017004820.1:c.36904T>C	XP_016860309.1:p.Leu12302=
XM_017004821.1:c.36901T>C	XP_016860310.1:p.Leu12301=
XM_017004822.1:c.33943T>C	XP_016860311.1:p.Leu11315=
XM_017004823.1:c.15559T>C	XP_016860312.1:p.Leu5187=
XM_024453094.1:c.37054T>C	XP_024308862.1:p.Leu12352=
XM_024453095.1:c.37051T>C	XP_024308863.1:p.Leu12351=
XM_024453096.1:c.36484T>C	XP_024308864.1:p.Leu12162=
XM_024453097.1:c.33826T>C	XP_024308865.1:p.Leu11276=
XM_024453098.1:c.33745T>C	XP_024308866.1:p.Leu11249=
XM_024453099.1:c.15508T>C	XP_024308867.1:p.Leu5170=
XM_024453100.1:c.5362T>C	XP_024308868.1:p.Leu1788=