Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522122T>A , CM000671.2:g.131522122T>A	GRCh38
NC_000009.11:g.134397509T>A , CM000671.1:g.134397509T>A	GRCh37
NC_000009.10:g.133387330T>A	NCBI36
NG_008896.1:g.24221T>A
NG_008896.2:g.24221T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1739T>A	ENSP00000343034.7:p.Leu580Gln
ENST00000404875.7:n.2441T>A
ENST00000423007.6:c.1958T>A	ENSP00000404119.2:p.Leu653Gln
ENST00000677295.2:c.*2245T>A	ENSP00000504346.2:n.*2245T>A
ENST00000678264.2:c.*2084T>A	ENSP00000503157.2:n.*2084T>A
ENST00000682070.1:n.2291-80T>A
ENST00000682813.1:n.2305T>A
ENST00000683392.1:n.4573-80T>A
ENST00000683712.1:n.2306T>A
ENST00000683900.1:n.3801T>A
ENST00000684062.1:n.2567T>A
ENST00000684579.1:n.3747T>A
ENST00000684679.1:n.1128T>A
ENST00000341012.12:c.1739T>A	ENSP00000343034.7:p.Leu580Gln
ENST00000372220.5:c.770T>A	ENSP00000361294.5:p.Leu257Gln
ENST00000372228.9:c.1967T>A	ENSP00000361302.3:p.Leu656Gln
ENST00000402686.8:c.1901T>A MANE Select	ENSP00000385797.4:p.Leu634Gln
ENST00000676640.1:c.1901T>A	ENSP00000503281.1:p.Leu634Gln
ENST00000676803.1:c.962T>A	ENSP00000503093.1:p.Leu321Gln
ENST00000676835.1:c.*1116T>A	ENSP00000502911.1:n.*1116T>A
ENST00000677029.1:c.1445T>A	ENSP00000502936.1:p.Leu482Gln
ENST00000677099.1:c.*1611T>A	ENSP00000504553.1:n.*1611T>A
ENST00000677216.1:c.1550T>A	ENSP00000503772.1:p.Leu517Gln
ENST00000677221.1:n.926T>A
ENST00000677295.1:c.*1203-80T>A	ENSP00000504346.1:n.*1203-80T>A
ENST00000677444.1:c.1846T>A
ENST00000677586.1:n.1268T>A
ENST00000677626.1:c.1550T>A	ENSP00000503552.1:p.Leu517Gln
ENST00000677853.1:c.*909T>A	ENSP00000503488.1:n.*909T>A
ENST00000678202.1:n.1060T>A
ENST00000678264.1:c.*1278T>A	ENSP00000503157.1:n.*1278T>A
ENST00000678303.1:c.1811T>A	ENSP00000503696.1:p.Leu604Gln
ENST00000678366.1:c.*2150T>A	ENSP00000504353.1:n.*2150T>A
ENST00000678546.1:c.*1846T>A	ENSP00000503062.1:n.*1846T>A
ENST00000678548.1:c.*2040T>A	ENSP00000503934.1:n.*2040T>A
ENST00000678626.1:n.1737T>A
ENST00000678739.1:c.*2147-80T>A	ENSP00000503806.1:n.*2147-80T>A
ENST00000678833.1:c.*1653T>A	ENSP00000503893.1:n.*1653T>A
ENST00000679023.1:c.1739T>A	ENSP00000503718.1:p.Leu580Gln
ENST00000679076.1:c.1520T>A
ENST00000679111.1:c.*657T>A	ENSP00000504257.1:n.*657T>A
ENST00000679189.1:c.1550T>A	ENSP00000503356.1:p.Leu517Gln
ENST00000341012.11:c.1739T>A	ENSP00000343034.7:p.Leu580Gln
ENST00000372220.4:c.764T>A	ENSP00000361294.4:p.Leu255Gln
ENST00000372228.7:c.1967T>A	ENSP00000361302.3:p.Leu656Gln
ENST00000402686.7:c.1901T>A	ENSP00000385797.3:p.Leu634Gln
ENST00000404875.6:c.1550T>A	ENSP00000384531.2:p.Leu517Gln
ENST00000423007.5:c.1901T>A	ENSP00000404119.1:p.Leu634Gln
ENST00000485278.5:n.2451T>A
ENST00000494883.1:n.444T>A
NM_001077365.1:c.1901T>A	NP_001070833.1:p.Leu634Gln
NM_001077366.1:c.1739T>A	NP_001070834.1:p.Leu580Gln
NM_001136113.1:c.1901T>A	NP_001129585.1:p.Leu634Gln
NM_001136114.1:c.1550T>A	NP_001129586.1:p.Leu517Gln
NM_007171.3:c.1967T>A	NP_009102.3:p.Leu656Gln
XM_005272156.1:c.1967T>A	XP_005272213.1:p.Leu656Gln
XM_005272158.1:c.1805T>A	XP_005272215.1:p.Leu602Gln
XM_005272159.1:c.1616T>A	XP_005272216.1:p.Leu539Gln
XM_005272162.1:c.770T>A	XP_005272219.1:p.Leu257Gln
XM_006716932.1:c.1616T>A	XP_006716995.1:p.Leu539Gln
XM_011518140.1:c.1820T>A	XP_011516442.1:p.Leu607Gln
XM_011518141.1:c.1754T>A	XP_011516443.1:p.Leu585Gln
XM_011518142.1:c.1658T>A	XP_011516444.1:p.Leu553Gln
XM_011518143.1:c.1652T>A	XP_011516445.1:p.Leu551Gln
XM_011518145.1:c.1511T>A	XP_011516447.1:p.Leu504Gln
XM_011518147.1:c.839T>A	XP_011516449.1:p.Leu280Gln
XR_929703.1:n.2143T>A
NM_001353193.1:c.1967T>A	NP_001340122.1:p.Leu656Gln
NM_001353194.1:c.1739T>A	NP_001340123.1:p.Leu580Gln
NM_001353195.1:c.1550T>A	NP_001340124.1:p.Leu517Gln
NM_001353196.1:c.1811T>A	NP_001340125.1:p.Leu604Gln
NM_001353197.1:c.1805T>A	NP_001340126.1:p.Leu602Gln
NM_001353198.1:c.1805T>A	NP_001340127.1:p.Leu602Gln
NM_001353199.1:c.1616T>A	NP_001340128.1:p.Leu539Gln
NM_001353200.1:c.1445T>A	NP_001340129.1:p.Leu482Gln
NR_148391.1:n.1951T>A
NR_148392.1:n.2169T>A
NR_148393.1:n.2090T>A
NR_148394.1:n.1844T>A
NR_148395.1:n.2242T>A
NR_148396.1:n.1876T>A
NR_148397.1:n.2001T>A
NR_148398.1:n.1956T>A
NR_148399.1:n.2482T>A
NR_148400.1:n.2081T>A
XM_005272162.3:c.770T>A	XP_005272219.1:p.Leu257Gln
XM_006716932.2:c.1616T>A	XP_006716995.1:p.Leu539Gln
XM_011518140.2:c.1820T>A	XP_011516442.1:p.Leu607Gln
XM_011518141.2:c.1754T>A	XP_011516443.1:p.Leu585Gln
XM_011518142.2:c.1658T>A	XP_011516444.1:p.Leu553Gln
XM_011518143.2:c.1652T>A	XP_011516445.1:p.Leu551Gln
XM_011518145.2:c.1511T>A	XP_011516447.1:p.Leu504Gln
XM_017014205.2:c.770T>A	XP_016869694.1:p.Leu257Gln
XM_024447380.1:c.770T>A	XP_024303148.1:p.Leu257Gln
XM_024447381.1:c.1076T>A	XP_024303149.1:p.Leu359Gln
XM_024447382.1:c.770T>A	XP_024303150.1:p.Leu257Gln
XR_001746160.2:n.2071T>A
XR_001746162.2:n.2276T>A
XR_001746164.1:n.1993T>A
XR_001746166.2:n.2288T>A
NM_001077365.2:c.1901T>A MANE Select	NP_001070833.1:p.Leu634Gln
NM_001077366.2:c.1739T>A	NP_001070834.1:p.Leu580Gln
NM_001136113.2:c.1901T>A	NP_001129585.1:p.Leu634Gln
NM_001136114.2:c.1550T>A	NP_001129586.1:p.Leu517Gln
NM_001353193.2:c.1967T>A	NP_001340122.2:p.Leu656Gln
NM_001353194.2:c.1739T>A	NP_001340123.1:p.Leu580Gln
NM_001353195.2:c.1550T>A	NP_001340124.1:p.Leu517Gln
NM_001353196.2:c.1811T>A	NP_001340125.1:p.Leu604Gln
NM_001353197.2:c.1805T>A	NP_001340126.2:p.Leu602Gln
NM_001353198.2:c.1805T>A	NP_001340127.2:p.Leu602Gln
NM_001353199.2:c.1616T>A	NP_001340128.2:p.Leu539Gln
NM_001353200.2:c.1445T>A	NP_001340129.1:p.Leu482Gln
NM_001374689.1:c.1889T>A	NP_001361618.1:p.Leu630Gln
NM_001374690.1:c.1682T>A	NP_001361619.1:p.Leu561Gln
NM_001374691.1:c.1550T>A	NP_001361620.1:p.Leu517Gln
NM_001374692.1:c.1550T>A	NP_001361621.1:p.Leu517Gln
NM_001374693.1:c.1550T>A	NP_001361622.1:p.Leu517Gln
NM_001374695.1:c.1511T>A	NP_001361624.1:p.Leu504Gln
NM_007171.4:c.1967T>A	NP_009102.4:p.Leu656Gln
NR_148391.2:n.1935T>A
NR_148392.2:n.2153T>A
NR_148393.2:n.2074T>A
NR_148394.2:n.1828T>A
NR_148395.2:n.2226T>A
NR_148396.2:n.1860T>A
NR_148397.2:n.1985T>A
NR_148398.2:n.1940T>A
NR_148399.2:n.2466T>A
NR_148400.2:n.2065T>A

Linked Data

Genomic Alleles

Transcript Alleles