Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522054G>C , CM000671.2:g.131522054G>C	GRCh38
NC_000009.11:g.134397441G>C , CM000671.1:g.134397441G>C	GRCh37
NC_000009.10:g.133387262G>C	NCBI36
NG_008896.1:g.24153G>C
NG_008896.2:g.24153G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1671G>C	ENSP00000343034.7:p.Trp557Cys
ENST00000404875.7:n.2373G>C
ENST00000423007.6:c.1890G>C	ENSP00000404119.2:p.Trp630Cys
ENST00000677295.2:c.*2177G>C	ENSP00000504346.2:n.*2177G>C
ENST00000678264.2:c.*2016G>C	ENSP00000503157.2:n.*2016G>C
ENST00000682070.1:n.2291-148G>C
ENST00000682813.1:n.2237G>C
ENST00000683392.1:n.4573-148G>C
ENST00000683712.1:n.2238G>C
ENST00000683900.1:n.3733G>C
ENST00000684062.1:n.2499G>C
ENST00000684579.1:n.3679G>C
ENST00000684679.1:n.1060G>C
ENST00000341012.12:c.1671G>C	ENSP00000343034.7:p.Trp557Cys
ENST00000372220.5:c.702G>C	ENSP00000361294.5:p.Trp234Cys
ENST00000372228.9:c.1899G>C	ENSP00000361302.3:p.Trp633Cys
ENST00000402686.8:c.1833G>C MANE Select	ENSP00000385797.4:p.Trp611Cys
ENST00000676640.1:c.1833G>C	ENSP00000503281.1:p.Trp611Cys
ENST00000676803.1:c.894G>C	ENSP00000503093.1:p.Trp298Cys
ENST00000676835.1:c.*1048G>C	ENSP00000502911.1:n.*1048G>C
ENST00000677029.1:c.1377G>C	ENSP00000502936.1:p.Trp459Cys
ENST00000677099.1:c.*1543G>C	ENSP00000504553.1:n.*1543G>C
ENST00000677216.1:c.1482G>C	ENSP00000503772.1:p.Trp494Cys
ENST00000677221.1:n.858G>C
ENST00000677295.1:c.*1203-148G>C	ENSP00000504346.1:n.*1203-148G>C
ENST00000677444.1:c.1778G>C
ENST00000677586.1:n.1200G>C
ENST00000677626.1:c.1482G>C	ENSP00000503552.1:p.Trp494Cys
ENST00000677853.1:c.*841G>C	ENSP00000503488.1:n.*841G>C
ENST00000678202.1:n.992G>C
ENST00000678264.1:c.*1210G>C	ENSP00000503157.1:n.*1210G>C
ENST00000678303.1:c.1743G>C	ENSP00000503696.1:p.Trp581Cys
ENST00000678366.1:c.*2082G>C	ENSP00000504353.1:n.*2082G>C
ENST00000678546.1:c.*1778G>C	ENSP00000503062.1:n.*1778G>C
ENST00000678548.1:c.*1972G>C	ENSP00000503934.1:n.*1972G>C
ENST00000678626.1:n.1669G>C
ENST00000678739.1:c.*2147-148G>C	ENSP00000503806.1:n.*2147-148G>C
ENST00000678833.1:c.*1585G>C	ENSP00000503893.1:n.*1585G>C
ENST00000679023.1:c.1671G>C	ENSP00000503718.1:p.Trp557Cys
ENST00000679076.1:c.1452G>C
ENST00000679111.1:c.*589G>C	ENSP00000504257.1:n.*589G>C
ENST00000679189.1:c.1482G>C	ENSP00000503356.1:p.Trp494Cys
ENST00000341012.11:c.1671G>C	ENSP00000343034.7:p.Trp557Cys
ENST00000372220.4:c.696G>C	ENSP00000361294.4:p.Trp232Cys
ENST00000372228.7:c.1899G>C	ENSP00000361302.3:p.Trp633Cys
ENST00000402686.7:c.1833G>C	ENSP00000385797.3:p.Trp611Cys
ENST00000404875.6:c.1482G>C	ENSP00000384531.2:p.Trp494Cys
ENST00000423007.5:c.1833G>C	ENSP00000404119.1:p.Trp611Cys
ENST00000485278.5:n.2383G>C
ENST00000494883.1:n.376G>C
NM_001077365.1:c.1833G>C	NP_001070833.1:p.Trp611Cys
NM_001077366.1:c.1671G>C	NP_001070834.1:p.Trp557Cys
NM_001136113.1:c.1833G>C	NP_001129585.1:p.Trp611Cys
NM_001136114.1:c.1482G>C	NP_001129586.1:p.Trp494Cys
NM_007171.3:c.1899G>C	NP_009102.3:p.Trp633Cys
XM_005272156.1:c.1899G>C	XP_005272213.1:p.Trp633Cys
XM_005272158.1:c.1737G>C	XP_005272215.1:p.Trp579Cys
XM_005272159.1:c.1548G>C	XP_005272216.1:p.Trp516Cys
XM_005272162.1:c.702G>C	XP_005272219.1:p.Trp234Cys
XM_006716932.1:c.1548G>C	XP_006716995.1:p.Trp516Cys
XM_011518140.1:c.1752G>C	XP_011516442.1:p.Trp584Cys
XM_011518141.1:c.1686G>C	XP_011516443.1:p.Trp562Cys
XM_011518142.1:c.1590G>C	XP_011516444.1:p.Trp530Cys
XM_011518143.1:c.1584G>C	XP_011516445.1:p.Trp528Cys
XM_011518145.1:c.1443G>C	XP_011516447.1:p.Trp481Cys
XM_011518147.1:c.771G>C	XP_011516449.1:p.Trp257Cys
XR_929703.1:n.2075G>C
NM_001353193.1:c.1899G>C	NP_001340122.1:p.Trp633Cys
NM_001353194.1:c.1671G>C	NP_001340123.1:p.Trp557Cys
NM_001353195.1:c.1482G>C	NP_001340124.1:p.Trp494Cys
NM_001353196.1:c.1743G>C	NP_001340125.1:p.Trp581Cys
NM_001353197.1:c.1737G>C	NP_001340126.1:p.Trp579Cys
NM_001353198.1:c.1737G>C	NP_001340127.1:p.Trp579Cys
NM_001353199.1:c.1548G>C	NP_001340128.1:p.Trp516Cys
NM_001353200.1:c.1377G>C	NP_001340129.1:p.Trp459Cys
NR_148391.1:n.1883G>C
NR_148392.1:n.2101G>C
NR_148393.1:n.2022G>C
NR_148394.1:n.1776G>C
NR_148395.1:n.2174G>C
NR_148396.1:n.1808G>C
NR_148397.1:n.1933G>C
NR_148398.1:n.1888G>C
NR_148399.1:n.2414G>C
NR_148400.1:n.2013G>C
XM_005272162.3:c.702G>C	XP_005272219.1:p.Trp234Cys
XM_006716932.2:c.1548G>C	XP_006716995.1:p.Trp516Cys
XM_011518140.2:c.1752G>C	XP_011516442.1:p.Trp584Cys
XM_011518141.2:c.1686G>C	XP_011516443.1:p.Trp562Cys
XM_011518142.2:c.1590G>C	XP_011516444.1:p.Trp530Cys
XM_011518143.2:c.1584G>C	XP_011516445.1:p.Trp528Cys
XM_011518145.2:c.1443G>C	XP_011516447.1:p.Trp481Cys
XM_017014205.2:c.702G>C	XP_016869694.1:p.Trp234Cys
XM_024447380.1:c.702G>C	XP_024303148.1:p.Trp234Cys
XM_024447381.1:c.1008G>C	XP_024303149.1:p.Trp336Cys
XM_024447382.1:c.702G>C	XP_024303150.1:p.Trp234Cys
XR_001746160.2:n.2003G>C
XR_001746162.2:n.2208G>C
XR_001746164.1:n.1925G>C
XR_001746166.2:n.2220G>C
NM_001077365.2:c.1833G>C MANE Select	NP_001070833.1:p.Trp611Cys
NM_001077366.2:c.1671G>C	NP_001070834.1:p.Trp557Cys
NM_001136113.2:c.1833G>C	NP_001129585.1:p.Trp611Cys
NM_001136114.2:c.1482G>C	NP_001129586.1:p.Trp494Cys
NM_001353193.2:c.1899G>C	NP_001340122.2:p.Trp633Cys
NM_001353194.2:c.1671G>C	NP_001340123.1:p.Trp557Cys
NM_001353195.2:c.1482G>C	NP_001340124.1:p.Trp494Cys
NM_001353196.2:c.1743G>C	NP_001340125.1:p.Trp581Cys
NM_001353197.2:c.1737G>C	NP_001340126.2:p.Trp579Cys
NM_001353198.2:c.1737G>C	NP_001340127.2:p.Trp579Cys
NM_001353199.2:c.1548G>C	NP_001340128.2:p.Trp516Cys
NM_001353200.2:c.1377G>C	NP_001340129.1:p.Trp459Cys
NM_001374689.1:c.1821G>C	NP_001361618.1:p.Trp607Cys
NM_001374690.1:c.1614G>C	NP_001361619.1:p.Trp538Cys
NM_001374691.1:c.1482G>C	NP_001361620.1:p.Trp494Cys
NM_001374692.1:c.1482G>C	NP_001361621.1:p.Trp494Cys
NM_001374693.1:c.1482G>C	NP_001361622.1:p.Trp494Cys
NM_001374695.1:c.1443G>C	NP_001361624.1:p.Trp481Cys
NM_007171.4:c.1899G>C	NP_009102.4:p.Trp633Cys
NR_148391.2:n.1867G>C
NR_148392.2:n.2085G>C
NR_148393.2:n.2006G>C
NR_148394.2:n.1760G>C
NR_148395.2:n.2158G>C
NR_148396.2:n.1792G>C
NR_148397.2:n.1917G>C
NR_148398.2:n.1872G>C
NR_148399.2:n.2398G>C
NR_148400.2:n.1997G>C

Linked Data

Genomic Alleles

Transcript Alleles