Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521463C>A , CM000671.2:g.131521463C>A	GRCh38
NC_000009.11:g.134396850C>A , CM000671.1:g.134396850C>A	GRCh37
NC_000009.10:g.133386671C>A	NCBI36
NG_008896.1:g.23562C>A
NG_008896.2:g.23562C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1654C>A	ENSP00000343034.7:p.Leu552Ile
ENST00000404875.7:n.2356C>A
ENST00000423007.6:c.1873C>A	ENSP00000404119.2:p.Leu625Ile
ENST00000677295.2:c.*2160C>A	ENSP00000504346.2:n.*2160C>A
ENST00000678264.2:c.*1999C>A	ENSP00000503157.2:n.*1999C>A
ENST00000682070.1:n.2281C>A
ENST00000682813.1:n.2220C>A
ENST00000683392.1:n.4563C>A
ENST00000683712.1:n.2221C>A
ENST00000683900.1:n.3716C>A
ENST00000684062.1:n.2482C>A
ENST00000684579.1:n.3662C>A
ENST00000684679.1:n.1043C>A
ENST00000341012.12:c.1654C>A	ENSP00000343034.7:p.Leu552Ile
ENST00000372220.5:c.685C>A	ENSP00000361294.5:p.Leu229Ile
ENST00000372228.9:c.1882C>A	ENSP00000361302.3:p.Leu628Ile
ENST00000402686.8:c.1816C>A MANE Select	ENSP00000385797.4:p.Leu606Ile
ENST00000676640.1:c.1816C>A	ENSP00000503281.1:p.Leu606Ile
ENST00000676803.1:c.877C>A	ENSP00000503093.1:p.Leu293Ile
ENST00000676835.1:c.*1031C>A	ENSP00000502911.1:n.*1031C>A
ENST00000677029.1:c.1360C>A	ENSP00000502936.1:p.Leu454Ile
ENST00000677099.1:c.*1526C>A	ENSP00000504553.1:n.*1526C>A
ENST00000677216.1:c.1465C>A	ENSP00000503772.1:p.Leu489Ile
ENST00000677221.1:n.841C>A
ENST00000677295.1:c.*1193C>A	ENSP00000504346.1:n.*1193C>A
ENST00000677444.1:c.1761C>A
ENST00000677586.1:n.1183C>A
ENST00000677626.1:c.1465C>A	ENSP00000503552.1:p.Leu489Ile
ENST00000677853.1:c.*824C>A	ENSP00000503488.1:n.*824C>A
ENST00000678202.1:n.975C>A
ENST00000678264.1:c.*1193C>A	ENSP00000503157.1:n.*1193C>A
ENST00000678303.1:c.1726C>A	ENSP00000503696.1:p.Leu576Ile
ENST00000678366.1:c.*2065C>A	ENSP00000504353.1:n.*2065C>A
ENST00000678546.1:c.*1761C>A	ENSP00000503062.1:n.*1761C>A
ENST00000678548.1:c.*1888C>A	ENSP00000503934.1:n.*1888C>A
ENST00000678626.1:n.1652C>A
ENST00000678739.1:c.*2137C>A	ENSP00000503806.1:n.*2137C>A
ENST00000678833.1:c.*1568C>A	ENSP00000503893.1:n.*1568C>A
ENST00000679023.1:c.1654C>A	ENSP00000503718.1:p.Leu552Ile
ENST00000679076.1:c.1435C>A
ENST00000679111.1:c.*572C>A	ENSP00000504257.1:n.*572C>A
ENST00000679189.1:c.1465C>A	ENSP00000503356.1:p.Leu489Ile
ENST00000341012.11:c.1654C>A	ENSP00000343034.7:p.Leu552Ile
ENST00000372220.4:c.679C>A	ENSP00000361294.4:p.Leu227Ile
ENST00000372228.7:c.1882C>A	ENSP00000361302.3:p.Leu628Ile
ENST00000402686.7:c.1816C>A	ENSP00000385797.3:p.Leu606Ile
ENST00000404875.6:c.1465C>A	ENSP00000384531.2:p.Leu489Ile
ENST00000423007.5:c.1816C>A	ENSP00000404119.1:p.Leu606Ile
ENST00000485278.5:n.2366C>A
ENST00000494883.1:n.359C>A
NM_001077365.1:c.1816C>A	NP_001070833.1:p.Leu606Ile
NM_001077366.1:c.1654C>A	NP_001070834.1:p.Leu552Ile
NM_001136113.1:c.1816C>A	NP_001129585.1:p.Leu606Ile
NM_001136114.1:c.1465C>A	NP_001129586.1:p.Leu489Ile
NM_007171.3:c.1882C>A	NP_009102.3:p.Leu628Ile
XM_005272156.1:c.1882C>A	XP_005272213.1:p.Leu628Ile
XM_005272158.1:c.1720C>A	XP_005272215.1:p.Leu574Ile
XM_005272159.1:c.1531C>A	XP_005272216.1:p.Leu511Ile
XM_005272162.1:c.685C>A	XP_005272219.1:p.Leu229Ile
XM_006716932.1:c.1531C>A	XP_006716995.1:p.Leu511Ile
XM_011518140.1:c.1735C>A	XP_011516442.1:p.Leu579Ile
XM_011518141.1:c.1669C>A	XP_011516443.1:p.Leu557Ile
XM_011518142.1:c.1573C>A	XP_011516444.1:p.Leu525Ile
XM_011518143.1:c.1567C>A	XP_011516445.1:p.Leu523Ile
XM_011518145.1:c.1426C>A	XP_011516447.1:p.Leu476Ile
XM_011518147.1:c.754C>A	XP_011516449.1:p.Leu252Ile
XR_929703.1:n.2058C>A
NM_001353193.1:c.1882C>A	NP_001340122.1:p.Leu628Ile
NM_001353194.1:c.1654C>A	NP_001340123.1:p.Leu552Ile
NM_001353195.1:c.1465C>A	NP_001340124.1:p.Leu489Ile
NM_001353196.1:c.1726C>A	NP_001340125.1:p.Leu576Ile
NM_001353197.1:c.1720C>A	NP_001340126.1:p.Leu574Ile
NM_001353198.1:c.1720C>A	NP_001340127.1:p.Leu574Ile
NM_001353199.1:c.1531C>A	NP_001340128.1:p.Leu511Ile
NM_001353200.1:c.1360C>A	NP_001340129.1:p.Leu454Ile
NR_148391.1:n.1866C>A
NR_148392.1:n.2084C>A
NR_148393.1:n.2005C>A
NR_148394.1:n.1759C>A
NR_148395.1:n.2157C>A
NR_148396.1:n.1791C>A
NR_148397.1:n.1916C>A
NR_148398.1:n.1871C>A
NR_148399.1:n.2397C>A
NR_148400.1:n.1996C>A
XM_005272162.3:c.685C>A	XP_005272219.1:p.Leu229Ile
XM_006716932.2:c.1531C>A	XP_006716995.1:p.Leu511Ile
XM_011518140.2:c.1735C>A	XP_011516442.1:p.Leu579Ile
XM_011518141.2:c.1669C>A	XP_011516443.1:p.Leu557Ile
XM_011518142.2:c.1573C>A	XP_011516444.1:p.Leu525Ile
XM_011518143.2:c.1567C>A	XP_011516445.1:p.Leu523Ile
XM_011518145.2:c.1426C>A	XP_011516447.1:p.Leu476Ile
XM_017014205.2:c.685C>A	XP_016869694.1:p.Leu229Ile
XM_024447380.1:c.685C>A	XP_024303148.1:p.Leu229Ile
XM_024447381.1:c.991C>A	XP_024303149.1:p.Leu331Ile
XM_024447382.1:c.685C>A	XP_024303150.1:p.Leu229Ile
XR_001746160.2:n.1986C>A
XR_001746162.2:n.2191C>A
XR_001746164.1:n.1908C>A
XR_001746166.2:n.2203C>A
NM_001077365.2:c.1816C>A MANE Select	NP_001070833.1:p.Leu606Ile
NM_001077366.2:c.1654C>A	NP_001070834.1:p.Leu552Ile
NM_001136113.2:c.1816C>A	NP_001129585.1:p.Leu606Ile
NM_001136114.2:c.1465C>A	NP_001129586.1:p.Leu489Ile
NM_001353193.2:c.1882C>A	NP_001340122.2:p.Leu628Ile
NM_001353194.2:c.1654C>A	NP_001340123.1:p.Leu552Ile
NM_001353195.2:c.1465C>A	NP_001340124.1:p.Leu489Ile
NM_001353196.2:c.1726C>A	NP_001340125.1:p.Leu576Ile
NM_001353197.2:c.1720C>A	NP_001340126.2:p.Leu574Ile
NM_001353198.2:c.1720C>A	NP_001340127.2:p.Leu574Ile
NM_001353199.2:c.1531C>A	NP_001340128.2:p.Leu511Ile
NM_001353200.2:c.1360C>A	NP_001340129.1:p.Leu454Ile
NM_001374689.1:c.1804C>A	NP_001361618.1:p.Leu602Ile
NM_001374690.1:c.1597C>A	NP_001361619.1:p.Leu533Ile
NM_001374691.1:c.1465C>A	NP_001361620.1:p.Leu489Ile
NM_001374692.1:c.1465C>A	NP_001361621.1:p.Leu489Ile
NM_001374693.1:c.1465C>A	NP_001361622.1:p.Leu489Ile
NM_001374695.1:c.1426C>A	NP_001361624.1:p.Leu476Ile
NM_007171.4:c.1882C>A	NP_009102.4:p.Leu628Ile
NR_148391.2:n.1850C>A
NR_148392.2:n.2068C>A
NR_148393.2:n.1989C>A
NR_148394.2:n.1743C>A
NR_148395.2:n.2141C>A
NR_148396.2:n.1775C>A
NR_148397.2:n.1900C>A
NR_148398.2:n.1855C>A
NR_148399.2:n.2381C>A
NR_148400.2:n.1980C>A

Linked Data

Genomic Alleles

Transcript Alleles