Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.111685009G>C , CM000685.2:g.111685009G>C	GRCh38
NC_000023.10:g.110928237G>C , CM000685.1:g.110928237G>C	GRCh37
NC_000023.9:g.110814893G>C	NCBI36
NG_016238.1:g.8892G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000623622.2:c.289G>C	ENSP00000485624.2:p.Val97Leu
ENST00000699748.1:c.*258G>C	ENSP00000514558.1:n.*258G>C
ENST00000394780.8:c.289G>C MANE Select	ENSP00000378260.3:p.Val97Leu
ENST00000636363.1:c.289G>C	ENSP00000490681.1:p.Val97Leu
ENST00000251943.8:c.-24G>C	ENSP00000251943.4:n.-24G>C
ENST00000371979.7:c.289G>C	ENSP00000361047.3:p.Val97Leu
ENST00000394780.7:c.289G>C	ENSP00000378260.3:p.Val97Leu
ENST00000436609.5:c.-24G>C	ENSP00000392990.2:n.-24G>C
ENST00000468657.5:c.*258G>C	ENSP00000480638.2:n.*258G>C
ENST00000470971.5:c.*53G>C	ENSP00000479424.2:n.*53G>C
ENST00000471924.5:c.366G>C	ENSP00000484523.2:n.366G>C
ENST00000473389.5:c.289G>C	ENSP00000480711.1:p.Val97Leu
ENST00000482374.5:c.*154G>C	ENSP00000479632.1:n.*154G>C
ENST00000482742.5:c.-24G>C	ENSP00000477513.1:n.-24G>C
ENST00000486353.5:c.289G>C	ENSP00000426892.2:p.Val97Leu
ENST00000487141.5:c.325G>C	ENSP00000478130.1:p.Val109Leu
ENST00000489033.5:c.*199G>C	ENSP00000482257.2:n.*199G>C
ENST00000492038.5:c.*53G>C	ENSP00000479483.1:n.*53G>C
ENST00000495283.5:c.*154G>C	ENSP00000427093.3:n.*154G>C
ENST00000610588.4:c.55G>C	ENSP00000479731.1:p.Val19Leu
ENST00000621367.4:c.-24G>C	ENSP00000481509.1:n.-24G>C
ENST00000622986.3:c.289G>C	ENSP00000485067.1:p.Val97Leu
ENST00000622997.3:c.*258G>C	ENSP00000485420.1:n.*258G>C
ENST00000623144.3:c.*258G>C	ENSP00000485279.1:n.*258G>C
ENST00000623148.3:c.307G>C	ENSP00000485658.1:n.307G>C
ENST00000623189.1:c.-24G>C	ENSP00000485392.1:n.-24G>C
ENST00000623255.1:c.280G>C	ENSP00000485333.1:p.Val94Leu
ENST00000624161.3:c.*53G>C	ENSP00000485181.1:n.*53G>C
ENST00000624881.3:c.230G>C	ENSP00000485093.1:p.Arg77Pro
NM_001039210.3:c.230G>C	NP_001034299.3:p.Arg77Pro
NM_001099922.2:c.289G>C	NP_001093392.1:p.Val97Leu
NM_001168385.1:c.289G>C	NP_001161857.1:p.Val97Leu
NM_001257230.1:c.-24G>C	NP_001244159.1:n.-24G>C
NM_001257231.1:c.55G>C	NP_001244160.1:p.Val19Leu
NM_001257234.1:c.-24G>C	NP_001244163.1:n.-24G>C
NM_001257235.1:c.-24G>C	NP_001244164.1:n.-24G>C
NM_001257237.1:c.-24G>C	NP_001244166.1:n.-24G>C
NM_001257239.1:c.-24G>C	NP_001244168.1:n.-24G>C
NM_001257240.1:c.-24G>C	NP_001244169.1:n.-24G>C
NM_001257241.1:c.55G>C	NP_001244170.1:p.Val19Leu
NM_018466.4:c.289G>C	NP_060936.1:p.Val97Leu
NR_033125.1:n.286G>C
XM_005262191.3:c.-24G>C	XP_005262248.1:n.-24G>C
XM_006724693.2:c.289G>C	XP_006724756.1:p.Val97Leu
XM_006724695.2:c.289G>C	XP_006724758.1:p.Val97Leu
XM_006724697.2:c.-24G>C	XP_006724760.2:n.-24G>C
XM_006724698.2:c.-24G>C	XP_006724761.2:n.-24G>C
XM_011531028.1:c.289G>C	XP_011529330.1:p.Val97Leu
XM_011531029.1:c.289G>C	XP_011529331.1:p.Val97Leu
XM_011531030.1:c.289G>C	XP_011529332.1:p.Val97Leu
XM_011531031.1:c.-24G>C	XP_011529333.1:n.-24G>C
XM_011531032.1:c.-24G>C	XP_011529334.1:n.-24G>C
XM_011531033.1:c.-24G>C	XP_011529335.1:n.-24G>C
XR_938409.1:n.762G>C
NM_001039210.4:c.230G>C	NP_001034299.3:p.Arg77Pro
NM_001168385.2:c.289G>C	NP_001161857.1:p.Val97Leu
NM_001257235.2:c.-24G>C	NP_001244164.1:n.-24G>C
NM_001257239.2:c.-24G>C	NP_001244168.1:n.-24G>C
NM_001257240.2:c.-24G>C	NP_001244169.1:n.-24G>C
NM_001257241.2:c.55G>C	NP_001244170.1:p.Val19Leu
NM_001324290.1:c.295G>C	NP_001311219.1:p.Val99Leu
NM_001324291.1:c.-24G>C	NP_001311220.1:n.-24G>C
NM_001324292.1:c.289G>C	NP_001311221.1:p.Val97Leu
NM_001324293.1:c.-24G>C	NP_001311222.1:n.-24G>C
NM_001324294.1:c.-24G>C	NP_001311223.1:n.-24G>C
NM_018466.5:c.289G>C	NP_060936.1:p.Val97Leu
NR_033125.2:n.286G>C
NR_136735.1:n.359G>C
NR_148693.1:n.390G>C
XM_006724693.3:c.289G>C	XP_006724756.1:p.Val97Leu
XM_006724697.3:c.-24G>C	XP_006724760.2:n.-24G>C
XM_006724698.3:c.-24G>C	XP_006724761.2:n.-24G>C
XM_011531028.2:c.289G>C	XP_011529330.1:p.Val97Leu
XM_011531030.2:c.289G>C	XP_011529332.1:p.Val97Leu
XM_011531033.3:c.-24G>C	XP_011529335.1:n.-24G>C
XM_017029846.1:c.289G>C	XP_016885335.1:p.Val97Leu
XM_017029847.1:c.289G>C	XP_016885336.1:p.Val97Leu
XM_017029848.1:c.289G>C	XP_016885337.1:p.Val97Leu
XM_017029849.1:c.289G>C	XP_016885338.1:p.Val97Leu
XM_017029850.2:c.289G>C	XP_016885339.1:p.Val97Leu
XM_017029851.1:c.-422G>C	XP_016885340.1:n.-422G>C
XM_024452449.1:c.289G>C	XP_024308217.1:p.Val97Leu
XR_001755726.1:n.329G>C
XR_001755727.1:n.329G>C
XR_001755728.1:n.329G>C
NM_001039210.5:c.230G>C	NP_001034299.3:p.Arg77Pro
NM_001099922.3:c.289G>C MANE Select	NP_001093392.1:p.Val97Leu
NM_001168385.3:c.289G>C	NP_001161857.1:p.Val97Leu
NM_001257230.2:c.-24G>C	NP_001244159.1:n.-24G>C
NM_001257235.3:c.-24G>C	NP_001244164.1:n.-24G>C
NM_001257239.3:c.-24G>C	NP_001244168.1:n.-24G>C
NM_001257240.3:c.-24G>C	NP_001244169.1:n.-24G>C
NM_001257241.3:c.55G>C	NP_001244170.1:p.Val19Leu
NM_001324290.2:c.295G>C	NP_001311219.1:p.Val99Leu
NM_001324291.2:c.-24G>C	NP_001311220.1:n.-24G>C
NM_001324292.2:c.289G>C	NP_001311221.1:p.Val97Leu
NM_001324294.2:c.-24G>C	NP_001311223.1:n.-24G>C
NM_018466.6:c.289G>C	NP_060936.1:p.Val97Leu
NR_033125.3:n.234G>C
NR_136735.2:n.359G>C
NR_148693.2:n.338G>C
NM_001257231.2:c.55G>C	NP_001244160.1:p.Val19Leu
NM_001257234.2:c.-24G>C	NP_001244163.1:n.-24G>C
NM_001257237.2:c.-24G>C	NP_001244166.1:n.-24G>C

Linked Data

Genomic Alleles

Transcript Alleles