Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522068T>C , CM000671.2:g.131522068T>C	GRCh38
NC_000009.11:g.134397455T>C , CM000671.1:g.134397455T>C	GRCh37
NC_000009.10:g.133387276T>C	NCBI36
NG_008896.1:g.24167T>C
NG_008896.2:g.24167T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1685T>C	ENSP00000343034.7:p.Leu562Pro
ENST00000404875.7:n.2387T>C
ENST00000423007.6:c.1904T>C	ENSP00000404119.2:p.Leu635Pro
ENST00000677295.2:c.*2191T>C	ENSP00000504346.2:n.*2191T>C
ENST00000678264.2:c.*2030T>C	ENSP00000503157.2:n.*2030T>C
ENST00000682070.1:n.2291-134T>C
ENST00000682813.1:n.2251T>C
ENST00000683392.1:n.4573-134T>C
ENST00000683712.1:n.2252T>C
ENST00000683900.1:n.3747T>C
ENST00000684062.1:n.2513T>C
ENST00000684579.1:n.3693T>C
ENST00000684679.1:n.1074T>C
ENST00000341012.12:c.1685T>C	ENSP00000343034.7:p.Leu562Pro
ENST00000372220.5:c.716T>C	ENSP00000361294.5:p.Leu239Pro
ENST00000372228.9:c.1913T>C	ENSP00000361302.3:p.Leu638Pro
ENST00000402686.8:c.1847T>C MANE Select	ENSP00000385797.4:p.Leu616Pro
ENST00000676640.1:c.1847T>C	ENSP00000503281.1:p.Leu616Pro
ENST00000676803.1:c.908T>C	ENSP00000503093.1:p.Leu303Pro
ENST00000676835.1:c.*1062T>C	ENSP00000502911.1:n.*1062T>C
ENST00000677029.1:c.1391T>C	ENSP00000502936.1:p.Leu464Pro
ENST00000677099.1:c.*1557T>C	ENSP00000504553.1:n.*1557T>C
ENST00000677216.1:c.1496T>C	ENSP00000503772.1:p.Leu499Pro
ENST00000677221.1:n.872T>C
ENST00000677295.1:c.*1203-134T>C	ENSP00000504346.1:n.*1203-134T>C
ENST00000677444.1:c.1792T>C
ENST00000677586.1:n.1214T>C
ENST00000677626.1:c.1496T>C	ENSP00000503552.1:p.Leu499Pro
ENST00000677853.1:c.*855T>C	ENSP00000503488.1:n.*855T>C
ENST00000678202.1:n.1006T>C
ENST00000678264.1:c.*1224T>C	ENSP00000503157.1:n.*1224T>C
ENST00000678303.1:c.1757T>C	ENSP00000503696.1:p.Leu586Pro
ENST00000678366.1:c.*2096T>C	ENSP00000504353.1:n.*2096T>C
ENST00000678546.1:c.*1792T>C	ENSP00000503062.1:n.*1792T>C
ENST00000678548.1:c.*1986T>C	ENSP00000503934.1:n.*1986T>C
ENST00000678626.1:n.1683T>C
ENST00000678739.1:c.*2147-134T>C	ENSP00000503806.1:n.*2147-134T>C
ENST00000678833.1:c.*1599T>C	ENSP00000503893.1:n.*1599T>C
ENST00000679023.1:c.1685T>C	ENSP00000503718.1:p.Leu562Pro
ENST00000679076.1:c.1466T>C
ENST00000679111.1:c.*603T>C	ENSP00000504257.1:n.*603T>C
ENST00000679189.1:c.1496T>C	ENSP00000503356.1:p.Leu499Pro
ENST00000341012.11:c.1685T>C	ENSP00000343034.7:p.Leu562Pro
ENST00000372220.4:c.710T>C	ENSP00000361294.4:p.Leu237Pro
ENST00000372228.7:c.1913T>C	ENSP00000361302.3:p.Leu638Pro
ENST00000402686.7:c.1847T>C	ENSP00000385797.3:p.Leu616Pro
ENST00000404875.6:c.1496T>C	ENSP00000384531.2:p.Leu499Pro
ENST00000423007.5:c.1847T>C	ENSP00000404119.1:p.Leu616Pro
ENST00000485278.5:n.2397T>C
ENST00000494883.1:n.390T>C
NM_001077365.1:c.1847T>C	NP_001070833.1:p.Leu616Pro
NM_001077366.1:c.1685T>C	NP_001070834.1:p.Leu562Pro
NM_001136113.1:c.1847T>C	NP_001129585.1:p.Leu616Pro
NM_001136114.1:c.1496T>C	NP_001129586.1:p.Leu499Pro
NM_007171.3:c.1913T>C	NP_009102.3:p.Leu638Pro
XM_005272156.1:c.1913T>C	XP_005272213.1:p.Leu638Pro
XM_005272158.1:c.1751T>C	XP_005272215.1:p.Leu584Pro
XM_005272159.1:c.1562T>C	XP_005272216.1:p.Leu521Pro
XM_005272162.1:c.716T>C	XP_005272219.1:p.Leu239Pro
XM_006716932.1:c.1562T>C	XP_006716995.1:p.Leu521Pro
XM_011518140.1:c.1766T>C	XP_011516442.1:p.Leu589Pro
XM_011518141.1:c.1700T>C	XP_011516443.1:p.Leu567Pro
XM_011518142.1:c.1604T>C	XP_011516444.1:p.Leu535Pro
XM_011518143.1:c.1598T>C	XP_011516445.1:p.Leu533Pro
XM_011518145.1:c.1457T>C	XP_011516447.1:p.Leu486Pro
XM_011518147.1:c.785T>C	XP_011516449.1:p.Leu262Pro
XR_929703.1:n.2089T>C
NM_001353193.1:c.1913T>C	NP_001340122.1:p.Leu638Pro
NM_001353194.1:c.1685T>C	NP_001340123.1:p.Leu562Pro
NM_001353195.1:c.1496T>C	NP_001340124.1:p.Leu499Pro
NM_001353196.1:c.1757T>C	NP_001340125.1:p.Leu586Pro
NM_001353197.1:c.1751T>C	NP_001340126.1:p.Leu584Pro
NM_001353198.1:c.1751T>C	NP_001340127.1:p.Leu584Pro
NM_001353199.1:c.1562T>C	NP_001340128.1:p.Leu521Pro
NM_001353200.1:c.1391T>C	NP_001340129.1:p.Leu464Pro
NR_148391.1:n.1897T>C
NR_148392.1:n.2115T>C
NR_148393.1:n.2036T>C
NR_148394.1:n.1790T>C
NR_148395.1:n.2188T>C
NR_148396.1:n.1822T>C
NR_148397.1:n.1947T>C
NR_148398.1:n.1902T>C
NR_148399.1:n.2428T>C
NR_148400.1:n.2027T>C
XM_005272162.3:c.716T>C	XP_005272219.1:p.Leu239Pro
XM_006716932.2:c.1562T>C	XP_006716995.1:p.Leu521Pro
XM_011518140.2:c.1766T>C	XP_011516442.1:p.Leu589Pro
XM_011518141.2:c.1700T>C	XP_011516443.1:p.Leu567Pro
XM_011518142.2:c.1604T>C	XP_011516444.1:p.Leu535Pro
XM_011518143.2:c.1598T>C	XP_011516445.1:p.Leu533Pro
XM_011518145.2:c.1457T>C	XP_011516447.1:p.Leu486Pro
XM_017014205.2:c.716T>C	XP_016869694.1:p.Leu239Pro
XM_024447380.1:c.716T>C	XP_024303148.1:p.Leu239Pro
XM_024447381.1:c.1022T>C	XP_024303149.1:p.Leu341Pro
XM_024447382.1:c.716T>C	XP_024303150.1:p.Leu239Pro
XR_001746160.2:n.2017T>C
XR_001746162.2:n.2222T>C
XR_001746164.1:n.1939T>C
XR_001746166.2:n.2234T>C
NM_001077365.2:c.1847T>C MANE Select	NP_001070833.1:p.Leu616Pro
NM_001077366.2:c.1685T>C	NP_001070834.1:p.Leu562Pro
NM_001136113.2:c.1847T>C	NP_001129585.1:p.Leu616Pro
NM_001136114.2:c.1496T>C	NP_001129586.1:p.Leu499Pro
NM_001353193.2:c.1913T>C	NP_001340122.2:p.Leu638Pro
NM_001353194.2:c.1685T>C	NP_001340123.1:p.Leu562Pro
NM_001353195.2:c.1496T>C	NP_001340124.1:p.Leu499Pro
NM_001353196.2:c.1757T>C	NP_001340125.1:p.Leu586Pro
NM_001353197.2:c.1751T>C	NP_001340126.2:p.Leu584Pro
NM_001353198.2:c.1751T>C	NP_001340127.2:p.Leu584Pro
NM_001353199.2:c.1562T>C	NP_001340128.2:p.Leu521Pro
NM_001353200.2:c.1391T>C	NP_001340129.1:p.Leu464Pro
NM_001374689.1:c.1835T>C	NP_001361618.1:p.Leu612Pro
NM_001374690.1:c.1628T>C	NP_001361619.1:p.Leu543Pro
NM_001374691.1:c.1496T>C	NP_001361620.1:p.Leu499Pro
NM_001374692.1:c.1496T>C	NP_001361621.1:p.Leu499Pro
NM_001374693.1:c.1496T>C	NP_001361622.1:p.Leu499Pro
NM_001374695.1:c.1457T>C	NP_001361624.1:p.Leu486Pro
NM_007171.4:c.1913T>C	NP_009102.4:p.Leu638Pro
NR_148391.2:n.1881T>C
NR_148392.2:n.2099T>C
NR_148393.2:n.2020T>C
NR_148394.2:n.1774T>C
NR_148395.2:n.2172T>C
NR_148396.2:n.1806T>C
NR_148397.2:n.1931T>C
NR_148398.2:n.1886T>C
NR_148399.2:n.2412T>C
NR_148400.2:n.2011T>C

Linked Data

Genomic Alleles

Transcript Alleles