Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161544750A>T , CM000663.2:g.161544750A>T	GRCh38
NC_000001.10:g.161514540A>T , CM000663.1:g.161514540A>T	GRCh37
NC_000001.9:g.159781164A>T	NCBI36
NG_009066.1:g.10874T>A , LRG_60:g.10874T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000569.8:c.528T>A MANE Select	NP_000560.7:p.Phe176Leu
ENST00000443193.6:c.528T>A MANE Select	ENSP00000392047.2:p.Phe176Leu
NM_000569.6:c.636T>A	NP_000560.5:p.Phe212Leu
NM_000569.7:c.843T>A	NP_000560.6:p.Phe281Leu
NM_001127592.1:c.633T>A	NP_001121064.1:p.Phe211Leu
NM_001127592.2:c.840T>A	NP_001121064.2:p.Phe280Leu
NM_001127593.1:c.528T>A , LRG_60t1:c.528T>A	NP_001121065.1:p.Phe176Leu
NM_001127595.1:c.528T>A	NP_001121067.1:p.Phe176Leu
NM_001127595.2:c.528T>A	NP_001121067.1:p.Phe176Leu
NM_001127596.1:c.525T>A	NP_001121068.1:p.Phe175Leu
NM_001127596.2:c.525T>A	NP_001121068.1:p.Phe175Leu
NM_001329120.1:c.528T>A	NP_001316049.1:p.Phe176Leu
NM_001329120.2:c.528T>A	NP_001316049.1:p.Phe176Leu
NM_001329122.1:c.635-1551T>A	NP_001316051.1:n.635-1551T>A
NM_001386450.1:c.525T>A	NP_001373379.1:p.Phe175Leu
ENST00000367967.7:c.528T>A	ENSP00000356944.3:p.Phe176Leu
ENST00000367967.8:c.528T>A	ENSP00000356944.3:p.Phe176Leu
ENST00000367969.7:c.636T>A	ENSP00000356946.3:p.Phe212Leu
ENST00000426740.5:c.578T>A
ENST00000426740.7:c.525T>A	ENSP00000410180.3:p.Phe175Leu
ENST00000426740.8:c.525T>A	ENSP00000410180.3:p.Phe175Leu
ENST00000436743.5:c.528T>A	ENSP00000416607.1:p.Phe176Leu
ENST00000436743.6:c.528T>A	ENSP00000416607.1:p.Phe176Leu
ENST00000436743.7:c.528T>A	ENSP00000416607.1:p.Phe176Leu
ENST00000443193.5:c.528T>A	ENSP00000392047.2:p.Phe176Leu
ENST00000699395.1:c.528T>A	ENSP00000514356.1:p.Phe176Leu
ENST00000699396.1:c.528T>A	ENSP00000514357.1:p.Phe176Leu
ENST00000699397.1:c.528T>A	ENSP00000514358.1:p.Phe176Leu
ENST00000699398.1:c.528T>A	ENSP00000514359.1:p.Phe176Leu
ENST00000699399.1:c.477T>A	ENSP00000514360.1:p.Phe159Leu
ENST00000699400.1:c.525T>A	ENSP00000514361.1:p.Phe175Leu
ENST00000699401.1:c.528T>A	ENSP00000514362.1:p.Phe176Leu
XM_011509293.1:c.428-1551T>A	XP_011507595.1:n.428-1551T>A
XM_024454064.1:c.525T>A	XP_024309832.1:p.Phe175Leu