Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523070G>C , CM000671.2:g.131523070G>C	GRCh38
NC_000009.11:g.134398457G>C , CM000671.1:g.134398457G>C	GRCh37
NC_000009.10:g.133388278G>C	NCBI36
NG_008896.1:g.25169G>C
NG_008896.2:g.25169G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1980G>C	ENSP00000343034.7:p.Trp660Cys
ENST00000404875.7:n.2682G>C
ENST00000423007.6:c.2199G>C	ENSP00000404119.2:p.Trp733Cys
ENST00000677295.2:c.*2486G>C	ENSP00000504346.2:n.*2486G>C
ENST00000678264.2:c.*2325G>C	ENSP00000503157.2:n.*2325G>C
ENST00000682070.1:n.2452G>C
ENST00000682639.1:c.139G>C
ENST00000682813.1:n.2539G>C
ENST00000683231.1:c.139G>C
ENST00000683392.1:n.4734G>C
ENST00000683712.1:n.2547G>C
ENST00000683900.1:n.4042G>C
ENST00000684062.1:n.2808G>C
ENST00000684399.1:c.139G>C
ENST00000684579.1:n.3988G>C
ENST00000341012.12:c.1980G>C	ENSP00000343034.7:p.Trp660Cys
ENST00000372220.5:c.1011G>C	ENSP00000361294.5:p.Trp337Cys
ENST00000372228.9:c.2208G>C	ENSP00000361302.3:p.Trp736Cys
ENST00000402686.8:c.2142G>C MANE Select	ENSP00000385797.4:p.Trp714Cys
ENST00000676640.1:c.2142G>C	ENSP00000503281.1:p.Trp714Cys
ENST00000676803.1:c.1203G>C	ENSP00000503093.1:p.Trp401Cys
ENST00000676835.1:c.*1357G>C	ENSP00000502911.1:n.*1357G>C
ENST00000677029.1:c.1686G>C	ENSP00000502936.1:p.Trp562Cys
ENST00000677099.1:c.*1852G>C	ENSP00000504553.1:n.*1852G>C
ENST00000677216.1:c.1791G>C	ENSP00000503772.1:p.Trp597Cys
ENST00000677295.1:c.*1364G>C	ENSP00000504346.1:n.*1364G>C
ENST00000677444.1:c.2087G>C
ENST00000677586.1:n.1509G>C
ENST00000677626.1:c.1791G>C	ENSP00000503552.1:p.Trp597Cys
ENST00000677853.1:c.*1150G>C	ENSP00000503488.1:n.*1150G>C
ENST00000678264.1:c.*1519G>C	ENSP00000503157.1:n.*1519G>C
ENST00000678303.1:c.2052G>C	ENSP00000503696.1:p.Trp684Cys
ENST00000678366.1:c.*2391G>C	ENSP00000504353.1:n.*2391G>C
ENST00000678546.1:c.*2087G>C	ENSP00000503062.1:n.*2087G>C
ENST00000678548.1:c.*2281G>C	ENSP00000503934.1:n.*2281G>C
ENST00000678626.1:n.1978G>C
ENST00000678739.1:c.*2308G>C	ENSP00000503806.1:n.*2308G>C
ENST00000678833.1:c.*1894G>C	ENSP00000503893.1:n.*1894G>C
ENST00000679023.1:c.1980G>C	ENSP00000503718.1:p.Trp660Cys
ENST00000679076.1:c.1761G>C
ENST00000679111.1:c.*898G>C	ENSP00000504257.1:n.*898G>C
ENST00000679189.1:c.1791G>C	ENSP00000503356.1:p.Trp597Cys
ENST00000341012.11:c.1980G>C	ENSP00000343034.7:p.Trp660Cys
ENST00000372220.4:c.1005G>C	ENSP00000361294.4:p.Trp335Cys
ENST00000372228.7:c.2208G>C	ENSP00000361302.3:p.Trp736Cys
ENST00000402686.7:c.2142G>C	ENSP00000385797.3:p.Trp714Cys
ENST00000404875.6:c.1791G>C	ENSP00000384531.2:p.Trp597Cys
ENST00000423007.5:c.2142G>C	ENSP00000404119.1:p.Trp714Cys
ENST00000485278.5:n.2692G>C
NM_001077365.1:c.2142G>C	NP_001070833.1:p.Trp714Cys
NM_001077366.1:c.1980G>C	NP_001070834.1:p.Trp660Cys
NM_001136113.1:c.2142G>C	NP_001129585.1:p.Trp714Cys
NM_001136114.1:c.1791G>C	NP_001129586.1:p.Trp597Cys
NM_007171.3:c.2208G>C	NP_009102.3:p.Trp736Cys
XM_005272156.1:c.2208G>C	XP_005272213.1:p.Trp736Cys
XM_005272158.1:c.2046G>C	XP_005272215.1:p.Trp682Cys
XM_005272159.1:c.1857G>C	XP_005272216.1:p.Trp619Cys
XM_005272162.1:c.1011G>C	XP_005272219.1:p.Trp337Cys
XM_006716932.1:c.1857G>C	XP_006716995.1:p.Trp619Cys
XM_011518140.1:c.2061G>C	XP_011516442.1:p.Trp687Cys
XM_011518141.1:c.1995G>C	XP_011516443.1:p.Trp665Cys
XM_011518142.1:c.1899G>C	XP_011516444.1:p.Trp633Cys
XM_011518143.1:c.1893G>C	XP_011516445.1:p.Trp631Cys
XM_011518145.1:c.1752G>C	XP_011516447.1:p.Trp584Cys
XM_011518147.1:c.1080G>C	XP_011516449.1:p.Trp360Cys
XR_929703.1:n.2384G>C
NM_001353193.1:c.2208G>C	NP_001340122.1:p.Trp736Cys
NM_001353194.1:c.1980G>C	NP_001340123.1:p.Trp660Cys
NM_001353195.1:c.1791G>C	NP_001340124.1:p.Trp597Cys
NM_001353196.1:c.2052G>C	NP_001340125.1:p.Trp684Cys
NM_001353197.1:c.2046G>C	NP_001340126.1:p.Trp682Cys
NM_001353198.1:c.2046G>C	NP_001340127.1:p.Trp682Cys
NM_001353199.1:c.1857G>C	NP_001340128.1:p.Trp619Cys
NM_001353200.1:c.1686G>C	NP_001340129.1:p.Trp562Cys
NR_148391.1:n.2192G>C
NR_148392.1:n.2410G>C
NR_148393.1:n.2331G>C
NR_148394.1:n.2085G>C
NR_148395.1:n.2483G>C
NR_148396.1:n.2117G>C
NR_148397.1:n.2242G>C
NR_148398.1:n.2197G>C
NR_148399.1:n.2723G>C
NR_148400.1:n.2322G>C
XM_005272162.3:c.1011G>C	XP_005272219.1:p.Trp337Cys
XM_006716932.2:c.1857G>C	XP_006716995.1:p.Trp619Cys
XM_011518140.2:c.2061G>C	XP_011516442.1:p.Trp687Cys
XM_011518141.2:c.1995G>C	XP_011516443.1:p.Trp665Cys
XM_011518142.2:c.1899G>C	XP_011516444.1:p.Trp633Cys
XM_011518143.2:c.1893G>C	XP_011516445.1:p.Trp631Cys
XM_011518145.2:c.1752G>C	XP_011516447.1:p.Trp584Cys
XM_017014205.2:c.1011G>C	XP_016869694.1:p.Trp337Cys
XM_024447380.1:c.1011G>C	XP_024303148.1:p.Trp337Cys
XM_024447381.1:c.1317G>C	XP_024303149.1:p.Trp439Cys
XM_024447382.1:c.1011G>C	XP_024303150.1:p.Trp337Cys
XR_001746160.2:n.2312G>C
XR_001746162.2:n.2517G>C
XR_001746164.1:n.2234G>C
XR_001746166.2:n.2529G>C
NM_001077365.2:c.2142G>C MANE Select	NP_001070833.1:p.Trp714Cys
NM_001077366.2:c.1980G>C	NP_001070834.1:p.Trp660Cys
NM_001136113.2:c.2142G>C	NP_001129585.1:p.Trp714Cys
NM_001136114.2:c.1791G>C	NP_001129586.1:p.Trp597Cys
NM_001353193.2:c.2208G>C	NP_001340122.2:p.Trp736Cys
NM_001353194.2:c.1980G>C	NP_001340123.1:p.Trp660Cys
NM_001353195.2:c.1791G>C	NP_001340124.1:p.Trp597Cys
NM_001353196.2:c.2052G>C	NP_001340125.1:p.Trp684Cys
NM_001353197.2:c.2046G>C	NP_001340126.2:p.Trp682Cys
NM_001353198.2:c.2046G>C	NP_001340127.2:p.Trp682Cys
NM_001353199.2:c.1857G>C	NP_001340128.2:p.Trp619Cys
NM_001353200.2:c.1686G>C	NP_001340129.1:p.Trp562Cys
NM_001374689.1:c.2130G>C	NP_001361618.1:p.Trp710Cys
NM_001374690.1:c.1923G>C	NP_001361619.1:p.Trp641Cys
NM_001374691.1:c.1791G>C	NP_001361620.1:p.Trp597Cys
NM_001374692.1:c.1791G>C	NP_001361621.1:p.Trp597Cys
NM_001374693.1:c.1791G>C	NP_001361622.1:p.Trp597Cys
NM_001374695.1:c.1752G>C	NP_001361624.1:p.Trp584Cys
NM_007171.4:c.2208G>C	NP_009102.4:p.Trp736Cys
NR_148391.2:n.2176G>C
NR_148392.2:n.2394G>C
NR_148393.2:n.2315G>C
NR_148394.2:n.2069G>C
NR_148395.2:n.2467G>C
NR_148396.2:n.2101G>C
NR_148397.2:n.2226G>C
NR_148398.2:n.2181G>C
NR_148399.2:n.2707G>C
NR_148400.2:n.2306G>C

Linked Data

Genomic Alleles

Transcript Alleles