Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73950709A>T , CM000664.2:g.73950709A>T	GRCh38
NC_000002.11:g.74177836A>T , CM000664.1:g.74177836A>T	GRCh37
NC_000002.10:g.74031344A>T	NCBI36
NG_008044.1:g.28884A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.568A>T MANE Select	ENSP00000264093.4:p.Ile190Phe
ENST00000264093.8:c.568A>T	ENSP00000264093.4:p.Ile190Phe
ENST00000348222.3:c.443+3803A>T	ENSP00000306964.3:n.443+3803A>T
ENST00000418996.5:c.*60+3803A>T	ENSP00000408209.1:n.*60+3803A>T
ENST00000462685.1:n.513A>T
ENST00000489796.5:n.569A>T
ENST00000629438.2:c.*185A>T	ENSP00000487122.1:n.*185A>T
NM_080916.2:c.568A>T	NP_550438.1:p.Ile190Phe
NM_080918.2:c.443+3803A>T	NP_550440.1:n.443+3803A>T
XM_005264173.2:c.277A>T	XP_005264230.1:p.Ile93Phe
XM_005264174.1:c.277A>T	XP_005264231.1:p.Ile93Phe
XM_011532647.1:c.550A>T	XP_011530949.1:p.Ile184Phe
XM_011532648.1:c.259A>T	XP_011530950.1:p.Ile87Phe
XR_244926.2:n.649A>T
NM_001318859.1:c.425+3821A>T	NP_001305788.1:n.425+3821A>T
NM_001318860.1:c.277A>T	NP_001305789.1:p.Ile93Phe
NM_001318861.1:c.277A>T	NP_001305790.1:p.Ile93Phe
NM_001318862.1:c.259A>T	NP_001305791.1:p.Ile87Phe
NM_001318863.1:c.259A>T	NP_001305792.1:p.Ile87Phe
NR_134893.1:n.415+3803A>T
NR_134894.1:n.540A>T
NR_134895.1:n.228-7437A>T
NR_134896.1:n.397+3821A>T
NR_134897.1:n.584A>T
NR_134898.1:n.415+3803A>T
XM_011532647.2:c.550A>T	XP_011530949.1:p.Ile184Phe
XM_024452739.1:c.277A>T	XP_024308507.1:p.Ile93Phe
XR_001738656.1:n.527+3803A>T
XR_244926.3:n.651A>T
NM_080916.3:c.568A>T MANE Select	NP_550438.1:p.Ile190Phe
NM_001318859.2:c.425+3821A>T	NP_001305788.1:n.425+3821A>T
NM_001318860.2:c.277A>T	NP_001305789.1:p.Ile93Phe
NM_001318861.2:c.277A>T	NP_001305790.1:p.Ile93Phe
NM_001318862.2:c.259A>T	NP_001305791.1:p.Ile87Phe
NM_001318863.2:c.259A>T	NP_001305792.1:p.Ile87Phe
NM_080918.3:c.443+3803A>T	NP_550440.1:n.443+3803A>T
NR_134893.2:n.361+3803A>T
NR_134894.2:n.486A>T
NR_134895.2:n.174-7437A>T
NR_134896.2:n.343+3821A>T
NR_134897.2:n.530A>T
NR_134898.2:n.361+3803A>T