Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178582787A= , CM000664.2:g.178582787A=	GRCh38
NC_000002.11:g.179447514A= , CM000664.1:g.179447514A=	GRCh37
NC_000002.10:g.179155760A=	NCBI36
NG_011618.3:g.253016T= , LRG_391:g.253016T=
NG_051363.1:g.64961A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.58159+153T= (TTN)	ENSP00000343764.6:n.58159+153T=
ENST00000342175.11:c.39244+153T= (TTN)	ENSP00000340554.6:n.39244+153T=
ENST00000359218.10:c.39043+153T= (TTN)	ENSP00000352154.5:n.39043+153T=
ENST00000342175.10:c.39244+153T= (TTN)	ENSP00000340554.6:n.39244+153T=
ENST00000342992.10:c.58159+153T= (TTN)	ENSP00000343764.6:n.58159+153T=
ENST00000359218.9:c.39043+153T= (TTN)	ENSP00000352154.5:n.39043+153T=
ENST00000460472.6:c.38668+153T= (TTN)	ENSP00000434586.1:n.38668+153T=
ENST00000589042.5:c.65863+153T= (TTN) MANE Select	ENSP00000467141.1:n.65863+153T=
ENST00000591111.5:c.60940+153T= (TTN)	ENSP00000465570.1:n.60940+153T=
ENST00000615779.4:c.60940+153T= (TTN)	ENSP00000483597.1:n.60940+153T=
NM_001256850.1:c.60940+153T= (TTN)	NP_001243779.1:n.60940+153T=
NM_001267550.2:c.65863+153T= (TTN) MANE Select	NP_001254479.2:n.65863+153T=
NM_003319.4:c.38668+153T= (TTN)	NP_003310.4:n.38668+153T=
NM_133378.4:c.58159+153T= (TTN)	NP_596869.4:n.58159+153T=
NM_133432.3:c.39043+153T= (TTN)	NP_597676.3:n.39043+153T=
NM_133437.4:c.39244+153T= (TTN)	NP_597681.4:n.39244+153T=
NR_038271.1:n.596+11338A= (TTN-AS1)
NR_038272.1:n.2178+81A= (TTN-AS1)
XM_011511729.1:c.64960+153T= (TTN)	XP_011510031.1:n.64960+153T=
XM_011511730.1:c.38854+153T= (TTN)	XP_011510032.1:n.38854+153T=
XM_011511731.1:c.38713+153T= (TTN)	XP_011510033.1:n.38713+153T=
XM_017004819.1:c.64756+153T= (TTN)	XP_016860308.1:n.64756+153T=
XM_017004820.1:c.60154+153T= (TTN)	XP_016860309.1:n.60154+153T=
XM_017004821.1:c.60151+153T= (TTN)	XP_016860310.1:n.60151+153T=
XM_017004822.1:c.57193+153T= (TTN)	XP_016860311.1:n.57193+153T=
XM_017004823.1:c.38809+153T= (TTN)	XP_016860312.1:n.38809+153T=
XM_024453094.1:c.60304+153T= (TTN)	XP_024308862.1:n.60304+153T=
XM_024453095.1:c.60301+153T= (TTN)	XP_024308863.1:n.60301+153T=
XM_024453096.1:c.59734+153T= (TTN)	XP_024308864.1:n.59734+153T=
XM_024453097.1:c.57076+153T= (TTN)	XP_024308865.1:n.57076+153T=
XM_024453098.1:c.56995+153T= (TTN)	XP_024308866.1:n.56995+153T=
XM_024453099.1:c.38758+153T= (TTN)	XP_024308867.1:n.38758+153T=
XM_024453100.1:c.28612+153T= (TTN)	XP_024308868.1:n.28612+153T=