Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522056T>C , CM000671.2:g.131522056T>C	GRCh38
NC_000009.11:g.134397443T>C , CM000671.1:g.134397443T>C	GRCh37
NC_000009.10:g.133387264T>C	NCBI36
NG_008896.1:g.24155T>C
NG_008896.2:g.24155T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1673T>C	ENSP00000343034.7:p.Leu558Pro
ENST00000404875.7:n.2375T>C
ENST00000423007.6:c.1892T>C	ENSP00000404119.2:p.Leu631Pro
ENST00000677295.2:c.*2179T>C	ENSP00000504346.2:n.*2179T>C
ENST00000678264.2:c.*2018T>C	ENSP00000503157.2:n.*2018T>C
ENST00000682070.1:n.2291-146T>C
ENST00000682813.1:n.2239T>C
ENST00000683392.1:n.4573-146T>C
ENST00000683712.1:n.2240T>C
ENST00000683900.1:n.3735T>C
ENST00000684062.1:n.2501T>C
ENST00000684579.1:n.3681T>C
ENST00000684679.1:n.1062T>C
ENST00000341012.12:c.1673T>C	ENSP00000343034.7:p.Leu558Pro
ENST00000372220.5:c.704T>C	ENSP00000361294.5:p.Leu235Pro
ENST00000372228.9:c.1901T>C	ENSP00000361302.3:p.Leu634Pro
ENST00000402686.8:c.1835T>C MANE Select	ENSP00000385797.4:p.Leu612Pro
ENST00000676640.1:c.1835T>C	ENSP00000503281.1:p.Leu612Pro
ENST00000676803.1:c.896T>C	ENSP00000503093.1:p.Leu299Pro
ENST00000676835.1:c.*1050T>C	ENSP00000502911.1:n.*1050T>C
ENST00000677029.1:c.1379T>C	ENSP00000502936.1:p.Leu460Pro
ENST00000677099.1:c.*1545T>C	ENSP00000504553.1:n.*1545T>C
ENST00000677216.1:c.1484T>C	ENSP00000503772.1:p.Leu495Pro
ENST00000677221.1:n.860T>C
ENST00000677295.1:c.*1203-146T>C	ENSP00000504346.1:n.*1203-146T>C
ENST00000677444.1:c.1780T>C
ENST00000677586.1:n.1202T>C
ENST00000677626.1:c.1484T>C	ENSP00000503552.1:p.Leu495Pro
ENST00000677853.1:c.*843T>C	ENSP00000503488.1:n.*843T>C
ENST00000678202.1:n.994T>C
ENST00000678264.1:c.*1212T>C	ENSP00000503157.1:n.*1212T>C
ENST00000678303.1:c.1745T>C	ENSP00000503696.1:p.Leu582Pro
ENST00000678366.1:c.*2084T>C	ENSP00000504353.1:n.*2084T>C
ENST00000678546.1:c.*1780T>C	ENSP00000503062.1:n.*1780T>C
ENST00000678548.1:c.*1974T>C	ENSP00000503934.1:n.*1974T>C
ENST00000678626.1:n.1671T>C
ENST00000678739.1:c.*2147-146T>C	ENSP00000503806.1:n.*2147-146T>C
ENST00000678833.1:c.*1587T>C	ENSP00000503893.1:n.*1587T>C
ENST00000679023.1:c.1673T>C	ENSP00000503718.1:p.Leu558Pro
ENST00000679076.1:c.1454T>C
ENST00000679111.1:c.*591T>C	ENSP00000504257.1:n.*591T>C
ENST00000679189.1:c.1484T>C	ENSP00000503356.1:p.Leu495Pro
ENST00000341012.11:c.1673T>C	ENSP00000343034.7:p.Leu558Pro
ENST00000372220.4:c.698T>C	ENSP00000361294.4:p.Leu233Pro
ENST00000372228.7:c.1901T>C	ENSP00000361302.3:p.Leu634Pro
ENST00000402686.7:c.1835T>C	ENSP00000385797.3:p.Leu612Pro
ENST00000404875.6:c.1484T>C	ENSP00000384531.2:p.Leu495Pro
ENST00000423007.5:c.1835T>C	ENSP00000404119.1:p.Leu612Pro
ENST00000485278.5:n.2385T>C
ENST00000494883.1:n.378T>C
NM_001077365.1:c.1835T>C	NP_001070833.1:p.Leu612Pro
NM_001077366.1:c.1673T>C	NP_001070834.1:p.Leu558Pro
NM_001136113.1:c.1835T>C	NP_001129585.1:p.Leu612Pro
NM_001136114.1:c.1484T>C	NP_001129586.1:p.Leu495Pro
NM_007171.3:c.1901T>C	NP_009102.3:p.Leu634Pro
XM_005272156.1:c.1901T>C	XP_005272213.1:p.Leu634Pro
XM_005272158.1:c.1739T>C	XP_005272215.1:p.Leu580Pro
XM_005272159.1:c.1550T>C	XP_005272216.1:p.Leu517Pro
XM_005272162.1:c.704T>C	XP_005272219.1:p.Leu235Pro
XM_006716932.1:c.1550T>C	XP_006716995.1:p.Leu517Pro
XM_011518140.1:c.1754T>C	XP_011516442.1:p.Leu585Pro
XM_011518141.1:c.1688T>C	XP_011516443.1:p.Leu563Pro
XM_011518142.1:c.1592T>C	XP_011516444.1:p.Leu531Pro
XM_011518143.1:c.1586T>C	XP_011516445.1:p.Leu529Pro
XM_011518145.1:c.1445T>C	XP_011516447.1:p.Leu482Pro
XM_011518147.1:c.773T>C	XP_011516449.1:p.Leu258Pro
XR_929703.1:n.2077T>C
NM_001353193.1:c.1901T>C	NP_001340122.1:p.Leu634Pro
NM_001353194.1:c.1673T>C	NP_001340123.1:p.Leu558Pro
NM_001353195.1:c.1484T>C	NP_001340124.1:p.Leu495Pro
NM_001353196.1:c.1745T>C	NP_001340125.1:p.Leu582Pro
NM_001353197.1:c.1739T>C	NP_001340126.1:p.Leu580Pro
NM_001353198.1:c.1739T>C	NP_001340127.1:p.Leu580Pro
NM_001353199.1:c.1550T>C	NP_001340128.1:p.Leu517Pro
NM_001353200.1:c.1379T>C	NP_001340129.1:p.Leu460Pro
NR_148391.1:n.1885T>C
NR_148392.1:n.2103T>C
NR_148393.1:n.2024T>C
NR_148394.1:n.1778T>C
NR_148395.1:n.2176T>C
NR_148396.1:n.1810T>C
NR_148397.1:n.1935T>C
NR_148398.1:n.1890T>C
NR_148399.1:n.2416T>C
NR_148400.1:n.2015T>C
XM_005272162.3:c.704T>C	XP_005272219.1:p.Leu235Pro
XM_006716932.2:c.1550T>C	XP_006716995.1:p.Leu517Pro
XM_011518140.2:c.1754T>C	XP_011516442.1:p.Leu585Pro
XM_011518141.2:c.1688T>C	XP_011516443.1:p.Leu563Pro
XM_011518142.2:c.1592T>C	XP_011516444.1:p.Leu531Pro
XM_011518143.2:c.1586T>C	XP_011516445.1:p.Leu529Pro
XM_011518145.2:c.1445T>C	XP_011516447.1:p.Leu482Pro
XM_017014205.2:c.704T>C	XP_016869694.1:p.Leu235Pro
XM_024447380.1:c.704T>C	XP_024303148.1:p.Leu235Pro
XM_024447381.1:c.1010T>C	XP_024303149.1:p.Leu337Pro
XM_024447382.1:c.704T>C	XP_024303150.1:p.Leu235Pro
XR_001746160.2:n.2005T>C
XR_001746162.2:n.2210T>C
XR_001746164.1:n.1927T>C
XR_001746166.2:n.2222T>C
NM_001077365.2:c.1835T>C MANE Select	NP_001070833.1:p.Leu612Pro
NM_001077366.2:c.1673T>C	NP_001070834.1:p.Leu558Pro
NM_001136113.2:c.1835T>C	NP_001129585.1:p.Leu612Pro
NM_001136114.2:c.1484T>C	NP_001129586.1:p.Leu495Pro
NM_001353193.2:c.1901T>C	NP_001340122.2:p.Leu634Pro
NM_001353194.2:c.1673T>C	NP_001340123.1:p.Leu558Pro
NM_001353195.2:c.1484T>C	NP_001340124.1:p.Leu495Pro
NM_001353196.2:c.1745T>C	NP_001340125.1:p.Leu582Pro
NM_001353197.2:c.1739T>C	NP_001340126.2:p.Leu580Pro
NM_001353198.2:c.1739T>C	NP_001340127.2:p.Leu580Pro
NM_001353199.2:c.1550T>C	NP_001340128.2:p.Leu517Pro
NM_001353200.2:c.1379T>C	NP_001340129.1:p.Leu460Pro
NM_001374689.1:c.1823T>C	NP_001361618.1:p.Leu608Pro
NM_001374690.1:c.1616T>C	NP_001361619.1:p.Leu539Pro
NM_001374691.1:c.1484T>C	NP_001361620.1:p.Leu495Pro
NM_001374692.1:c.1484T>C	NP_001361621.1:p.Leu495Pro
NM_001374693.1:c.1484T>C	NP_001361622.1:p.Leu495Pro
NM_001374695.1:c.1445T>C	NP_001361624.1:p.Leu482Pro
NM_007171.4:c.1901T>C	NP_009102.4:p.Leu634Pro
NR_148391.2:n.1869T>C
NR_148392.2:n.2087T>C
NR_148393.2:n.2008T>C
NR_148394.2:n.1762T>C
NR_148395.2:n.2160T>C
NR_148396.2:n.1794T>C
NR_148397.2:n.1919T>C
NR_148398.2:n.1874T>C
NR_148399.2:n.2400T>C
NR_148400.2:n.1999T>C

Linked Data

Genomic Alleles

Transcript Alleles