Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67158475C>A , CM000670.2:g.67158475C>A	GRCh38
NC_000008.10:g.68070710C>A , CM000670.1:g.68070710C>A	GRCh37
NC_000008.9:g.68233264C>A	NCBI36
NG_034100.1:g.99108C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262210.11:c.2336C>A	ENSP00000262210.6:p.Ala779Glu
ENST00000521324.3:c.142C>A
ENST00000674993.1:c.2360C>A	ENSP00000502454.1:p.Ala787Glu
ENST00000675306.2:c.1994C>A	ENSP00000502421.1:p.Ala665Glu
ENST00000675869.1:c.2075C>A	ENSP00000502747.1:p.Ala692Glu
ENST00000675955.1:c.2189C>A	ENSP00000501676.1:p.Ala730Glu
ENST00000675990.1:n.3599C>A
ENST00000676113.1:c.2228C>A	ENSP00000501645.1:p.Ala743Glu
ENST00000676317.1:c.2255C>A	ENSP00000502047.1:p.Ala752Glu
ENST00000676471.1:c.2003C>A	ENSP00000503711.1:p.Ala668Glu
ENST00000676534.1:n.5196C>A
ENST00000676567.1:c.*894C>A	ENSP00000503427.1:n.*894C>A
ENST00000676573.1:c.1571C>A	ENSP00000504532.1:p.Ala524Glu
ENST00000676605.1:c.2378C>A	ENSP00000503605.1:p.Ala793Glu
ENST00000676695.1:c.2196C>A	ENSP00000503292.1:n.2196C>A
ENST00000676697.1:n.3131C>A
ENST00000676804.1:c.573C>A
ENST00000676847.1:c.2249C>A	ENSP00000503336.1:p.Ala750Glu
ENST00000676858.1:c.*231C>A	ENSP00000502925.1:n.*231C>A
ENST00000676882.1:c.2156C>A	ENSP00000504342.1:p.Ala719Glu
ENST00000676968.1:c.142C>A
ENST00000677009.1:c.2255C>A	ENSP00000503297.1:p.Ala752Glu
ENST00000677052.1:n.1768C>A
ENST00000677131.1:c.142C>A
ENST00000677256.1:c.*1989C>A	ENSP00000504102.1:n.*1989C>A
ENST00000677430.1:c.2189C>A	ENSP00000504177.1:p.Ala730Glu
ENST00000677455.1:n.2143C>A
ENST00000677473.1:c.*286C>A	ENSP00000503534.1:n.*286C>A
ENST00000677592.1:c.2237C>A	ENSP00000504516.1:p.Ala746Glu
ENST00000677619.1:c.1616C>A	ENSP00000504522.1:p.Ala539Glu
ENST00000677697.1:n.238C>A
ENST00000677845.1:c.*641C>A	ENSP00000503524.1:n.*641C>A
ENST00000677855.1:c.1578C>A	ENSP00000504757.1:n.1578C>A
ENST00000677964.1:c.142C>A
ENST00000678017.1:c.1121C>A	ENSP00000504394.1:p.Ala374Glu
ENST00000678138.1:n.2433C>A
ENST00000678156.1:n.1910C>A
ENST00000678318.1:c.1805C>A	ENSP00000503690.1:p.Ala602Glu
ENST00000678362.1:c.*1047C>A	ENSP00000504317.1:n.*1047C>A
ENST00000678542.1:c.2378C>A	ENSP00000503878.1:p.Ala793Glu
ENST00000678616.1:c.2270C>A MANE Select	ENSP00000504733.1:p.Ala757Glu
ENST00000678635.1:n.765C>A
ENST00000678645.1:c.2147C>A	ENSP00000504031.1:p.Ala716Glu
ENST00000678723.1:c.142C>A
ENST00000678747.1:c.1697C>A	ENSP00000503390.1:p.Ala566Glu
ENST00000678807.1:n.1305C>A
ENST00000678895.1:c.142C>A
ENST00000679042.1:n.3095C>A
ENST00000679112.1:c.*2169C>A	ENSP00000503739.1:n.*2169C>A
ENST00000679226.1:c.1994C>A	ENSP00000503601.1:p.Ala665Glu
ENST00000679274.1:n.1194C>A
ENST00000679295.1:n.1241C>A
ENST00000262210.9:c.2255C>A	ENSP00000262210.5:p.Ala752Glu
ENST00000519163.6:c.*2521C>A	ENSP00000428694.1:n.*2521C>A
ENST00000519668.1:c.1220C>A	ENSP00000430092.1:p.Ala407Glu
ENST00000521168.5:n.260C>A
NM_001291339.1:c.1220C>A	NP_001278268.1:p.Ala407Glu
NM_024790.6:c.2255C>A	NP_079066.5:p.Ala752Glu
XM_005251305.3:c.2498C>A	XP_005251362.2:p.Ala833Glu
XM_006716474.2:c.2345C>A	XP_006716537.2:p.Ala782Glu
XM_006716477.2:c.1967C>A	XP_006716540.2:p.Ala656Glu
XM_011517598.1:c.2540C>A	XP_011515900.1:p.Ala847Glu
XM_011517599.1:c.2516C>A	XP_011515901.1:p.Ala839Glu
XM_011517600.1:c.2474C>A	XP_011515902.1:p.Ala825Glu
XM_011517601.1:c.2435C>A	XP_011515903.1:p.Ala812Glu
XM_011517602.1:c.2393C>A	XP_011515904.1:p.Ala798Glu
XM_011517603.1:c.2294C>A	XP_011515905.1:p.Ala765Glu
XM_011517604.1:c.2294C>A	XP_011515906.1:p.Ala765Glu
XM_011517605.1:c.2294C>A	XP_011515907.1:p.Ala765Glu
XM_011517606.1:c.2270C>A	XP_011515908.1:p.Ala757Glu
XM_011517607.1:c.2270C>A	XP_011515909.1:p.Ala757Glu
XM_011517608.1:c.2189C>A	XP_011515910.1:p.Ala730Glu
XM_011517609.1:c.1415C>A	XP_011515911.1:p.Ala472Glu
XM_011517610.1:c.935C>A	XP_011515912.1:p.Ala312Glu
XM_011517611.1:c.575C>A	XP_011515913.1:p.Ala192Glu
NM_001363131.1:c.2189C>A	NP_001350060.1:p.Ala730Glu
NM_001363132.1:c.2075C>A	NP_001350061.1:p.Ala692Glu
NM_001363133.1:c.1994C>A	NP_001350062.1:p.Ala665Glu
NM_001364869.1:c.2336C>A	NP_001351798.1:p.Ala779Glu
NM_001364870.1:c.2156C>A	NP_001351799.1:p.Ala719Glu
XM_005251305.4:c.2498C>A	XP_005251362.2:p.Ala833Glu
XM_006716474.3:c.2345C>A	XP_006716537.2:p.Ala782Glu
XM_006716477.3:c.1967C>A	XP_006716540.2:p.Ala656Glu
XM_011517598.2:c.2540C>A	XP_011515900.1:p.Ala847Glu
XM_011517599.2:c.2516C>A	XP_011515901.1:p.Ala839Glu
XM_011517600.2:c.2474C>A	XP_011515902.1:p.Ala825Glu
XM_011517601.2:c.2435C>A	XP_011515903.1:p.Ala812Glu
XM_011517602.2:c.2393C>A	XP_011515904.1:p.Ala798Glu
XM_011517603.2:c.2294C>A	XP_011515905.1:p.Ala765Glu
XM_011517607.2:c.2270C>A	XP_011515909.1:p.Ala757Glu
XM_011517609.2:c.1415C>A	XP_011515911.1:p.Ala472Glu
XM_011517611.3:c.575C>A	XP_011515913.1:p.Ala192Glu
XM_017013847.2:c.2399C>A	XP_016869336.1:p.Ala800Glu
XM_017013848.2:c.2375C>A	XP_016869337.1:p.Ala792Glu
XM_017013849.2:c.2336C>A	XP_016869338.1:p.Ala779Glu
XM_017013850.2:c.2294C>A	XP_016869339.1:p.Ala765Glu
XM_017013851.2:c.2147C>A	XP_016869340.1:p.Ala716Glu
XM_017013852.2:c.2141C>A	XP_016869341.1:p.Ala714Glu
XM_017013854.2:c.1943C>A	XP_016869343.1:p.Ala648Glu
XM_017013855.2:c.1709C>A	XP_016869344.1:p.Ala570Glu
XM_017013856.2:c.1616C>A	XP_016869345.1:p.Ala539Glu
XM_017013858.2:c.782C>A	XP_016869347.1:p.Ala261Glu
XM_024447278.1:c.2270C>A	XP_024303046.1:p.Ala757Glu
XM_024447279.1:c.2189C>A	XP_024303047.1:p.Ala730Glu
XM_024447281.1:c.1994C>A	XP_024303049.1:p.Ala665Glu
XM_024447282.1:c.1697C>A	XP_024303050.1:p.Ala566Glu
XM_024447283.1:c.1373C>A	XP_024303051.1:p.Ala458Glu
XM_024447284.1:c.935C>A	XP_024303052.1:p.Ala312Glu
NM_001363131.2:c.2189C>A	NP_001350060.1:p.Ala730Glu
NM_001363132.2:c.2075C>A	NP_001350061.1:p.Ala692Glu
NM_001363133.2:c.1994C>A	NP_001350062.1:p.Ala665Glu
NM_001291339.2:c.1220C>A	NP_001278268.1:p.Ala407Glu
NM_001382391.1:c.2270C>A MANE Select	NP_001369320.1:p.Ala757Glu

Linked Data

Genomic Alleles

Transcript Alleles