Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522970T>C , CM000671.2:g.131522970T>C	GRCh38
NC_000009.11:g.134398357T>C , CM000671.1:g.134398357T>C	GRCh37
NC_000009.10:g.133388178T>C	NCBI36
NG_008896.1:g.25069T>C
NG_008896.2:g.25069T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1880T>C	ENSP00000343034.7:p.Val627Ala
ENST00000404875.7:n.2582T>C
ENST00000423007.6:c.2099T>C	ENSP00000404119.2:p.Val700Ala
ENST00000677295.2:c.*2386T>C	ENSP00000504346.2:n.*2386T>C
ENST00000678264.2:c.*2225T>C	ENSP00000503157.2:n.*2225T>C
ENST00000682070.1:n.2352T>C
ENST00000682639.1:c.39T>C
ENST00000682813.1:n.2439T>C
ENST00000683231.1:c.39T>C
ENST00000683392.1:n.4634T>C
ENST00000683712.1:n.2447T>C
ENST00000683900.1:n.3942T>C
ENST00000684062.1:n.2708T>C
ENST00000684399.1:c.39T>C
ENST00000684579.1:n.3888T>C
ENST00000341012.12:c.1880T>C	ENSP00000343034.7:p.Val627Ala
ENST00000372220.5:c.911T>C	ENSP00000361294.5:p.Val304Ala
ENST00000372228.9:c.2108T>C	ENSP00000361302.3:p.Val703Ala
ENST00000402686.8:c.2042T>C MANE Select	ENSP00000385797.4:p.Val681Ala
ENST00000676640.1:c.2042T>C	ENSP00000503281.1:p.Val681Ala
ENST00000676803.1:c.1103T>C	ENSP00000503093.1:p.Val368Ala
ENST00000676835.1:c.*1257T>C	ENSP00000502911.1:n.*1257T>C
ENST00000677029.1:c.1586T>C	ENSP00000502936.1:p.Val529Ala
ENST00000677099.1:c.*1752T>C	ENSP00000504553.1:n.*1752T>C
ENST00000677216.1:c.1691T>C	ENSP00000503772.1:p.Val564Ala
ENST00000677221.1:n.1067T>C
ENST00000677295.1:c.*1264T>C	ENSP00000504346.1:n.*1264T>C
ENST00000677444.1:c.1987T>C
ENST00000677586.1:n.1409T>C
ENST00000677626.1:c.1691T>C	ENSP00000503552.1:p.Val564Ala
ENST00000677853.1:c.*1050T>C	ENSP00000503488.1:n.*1050T>C
ENST00000678264.1:c.*1419T>C	ENSP00000503157.1:n.*1419T>C
ENST00000678303.1:c.1952T>C	ENSP00000503696.1:p.Val651Ala
ENST00000678366.1:c.*2291T>C	ENSP00000504353.1:n.*2291T>C
ENST00000678546.1:c.*1987T>C	ENSP00000503062.1:n.*1987T>C
ENST00000678548.1:c.*2181T>C	ENSP00000503934.1:n.*2181T>C
ENST00000678626.1:n.1878T>C
ENST00000678739.1:c.*2208T>C	ENSP00000503806.1:n.*2208T>C
ENST00000678833.1:c.*1794T>C	ENSP00000503893.1:n.*1794T>C
ENST00000679023.1:c.1880T>C	ENSP00000503718.1:p.Val627Ala
ENST00000679076.1:c.1661T>C
ENST00000679111.1:c.*798T>C	ENSP00000504257.1:n.*798T>C
ENST00000679189.1:c.1691T>C	ENSP00000503356.1:p.Val564Ala
ENST00000341012.11:c.1880T>C	ENSP00000343034.7:p.Val627Ala
ENST00000372220.4:c.905T>C	ENSP00000361294.4:p.Val302Ala
ENST00000372228.7:c.2108T>C	ENSP00000361302.3:p.Val703Ala
ENST00000402686.7:c.2042T>C	ENSP00000385797.3:p.Val681Ala
ENST00000404875.6:c.1691T>C	ENSP00000384531.2:p.Val564Ala
ENST00000423007.5:c.2042T>C	ENSP00000404119.1:p.Val681Ala
ENST00000485278.5:n.2592T>C
NM_001077365.1:c.2042T>C	NP_001070833.1:p.Val681Ala
NM_001077366.1:c.1880T>C	NP_001070834.1:p.Val627Ala
NM_001136113.1:c.2042T>C	NP_001129585.1:p.Val681Ala
NM_001136114.1:c.1691T>C	NP_001129586.1:p.Val564Ala
NM_007171.3:c.2108T>C	NP_009102.3:p.Val703Ala
XM_005272156.1:c.2108T>C	XP_005272213.1:p.Val703Ala
XM_005272158.1:c.1946T>C	XP_005272215.1:p.Val649Ala
XM_005272159.1:c.1757T>C	XP_005272216.1:p.Val586Ala
XM_005272162.1:c.911T>C	XP_005272219.1:p.Val304Ala
XM_006716932.1:c.1757T>C	XP_006716995.1:p.Val586Ala
XM_011518140.1:c.1961T>C	XP_011516442.1:p.Val654Ala
XM_011518141.1:c.1895T>C	XP_011516443.1:p.Val632Ala
XM_011518142.1:c.1799T>C	XP_011516444.1:p.Val600Ala
XM_011518143.1:c.1793T>C	XP_011516445.1:p.Val598Ala
XM_011518145.1:c.1652T>C	XP_011516447.1:p.Val551Ala
XM_011518147.1:c.980T>C	XP_011516449.1:p.Val327Ala
XR_929703.1:n.2284T>C
NM_001353193.1:c.2108T>C	NP_001340122.1:p.Val703Ala
NM_001353194.1:c.1880T>C	NP_001340123.1:p.Val627Ala
NM_001353195.1:c.1691T>C	NP_001340124.1:p.Val564Ala
NM_001353196.1:c.1952T>C	NP_001340125.1:p.Val651Ala
NM_001353197.1:c.1946T>C	NP_001340126.1:p.Val649Ala
NM_001353198.1:c.1946T>C	NP_001340127.1:p.Val649Ala
NM_001353199.1:c.1757T>C	NP_001340128.1:p.Val586Ala
NM_001353200.1:c.1586T>C	NP_001340129.1:p.Val529Ala
NR_148391.1:n.2092T>C
NR_148392.1:n.2310T>C
NR_148393.1:n.2231T>C
NR_148394.1:n.1985T>C
NR_148395.1:n.2383T>C
NR_148396.1:n.2017T>C
NR_148397.1:n.2142T>C
NR_148398.1:n.2097T>C
NR_148399.1:n.2623T>C
NR_148400.1:n.2222T>C
XM_005272162.3:c.911T>C	XP_005272219.1:p.Val304Ala
XM_006716932.2:c.1757T>C	XP_006716995.1:p.Val586Ala
XM_011518140.2:c.1961T>C	XP_011516442.1:p.Val654Ala
XM_011518141.2:c.1895T>C	XP_011516443.1:p.Val632Ala
XM_011518142.2:c.1799T>C	XP_011516444.1:p.Val600Ala
XM_011518143.2:c.1793T>C	XP_011516445.1:p.Val598Ala
XM_011518145.2:c.1652T>C	XP_011516447.1:p.Val551Ala
XM_017014205.2:c.911T>C	XP_016869694.1:p.Val304Ala
XM_024447380.1:c.911T>C	XP_024303148.1:p.Val304Ala
XM_024447381.1:c.1217T>C	XP_024303149.1:p.Val406Ala
XM_024447382.1:c.911T>C	XP_024303150.1:p.Val304Ala
XR_001746160.2:n.2212T>C
XR_001746162.2:n.2417T>C
XR_001746164.1:n.2134T>C
XR_001746166.2:n.2429T>C
NM_001077365.2:c.2042T>C MANE Select	NP_001070833.1:p.Val681Ala
NM_001077366.2:c.1880T>C	NP_001070834.1:p.Val627Ala
NM_001136113.2:c.2042T>C	NP_001129585.1:p.Val681Ala
NM_001136114.2:c.1691T>C	NP_001129586.1:p.Val564Ala
NM_001353193.2:c.2108T>C	NP_001340122.2:p.Val703Ala
NM_001353194.2:c.1880T>C	NP_001340123.1:p.Val627Ala
NM_001353195.2:c.1691T>C	NP_001340124.1:p.Val564Ala
NM_001353196.2:c.1952T>C	NP_001340125.1:p.Val651Ala
NM_001353197.2:c.1946T>C	NP_001340126.2:p.Val649Ala
NM_001353198.2:c.1946T>C	NP_001340127.2:p.Val649Ala
NM_001353199.2:c.1757T>C	NP_001340128.2:p.Val586Ala
NM_001353200.2:c.1586T>C	NP_001340129.1:p.Val529Ala
NM_001374689.1:c.2030T>C	NP_001361618.1:p.Val677Ala
NM_001374690.1:c.1823T>C	NP_001361619.1:p.Val608Ala
NM_001374691.1:c.1691T>C	NP_001361620.1:p.Val564Ala
NM_001374692.1:c.1691T>C	NP_001361621.1:p.Val564Ala
NM_001374693.1:c.1691T>C	NP_001361622.1:p.Val564Ala
NM_001374695.1:c.1652T>C	NP_001361624.1:p.Val551Ala
NM_007171.4:c.2108T>C	NP_009102.4:p.Val703Ala
NR_148391.2:n.2076T>C
NR_148392.2:n.2294T>C
NR_148393.2:n.2215T>C
NR_148394.2:n.1969T>C
NR_148395.2:n.2367T>C
NR_148396.2:n.2001T>C
NR_148397.2:n.2126T>C
NR_148398.2:n.2081T>C
NR_148399.2:n.2607T>C
NR_148400.2:n.2206T>C

Linked Data

Genomic Alleles

Transcript Alleles