Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523056A>C , CM000671.2:g.131523056A>C	GRCh38
NC_000009.11:g.134398443A>C , CM000671.1:g.134398443A>C	GRCh37
NC_000009.10:g.133388264A>C	NCBI36
NG_008896.1:g.25155A>C
NG_008896.2:g.25155A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1966A>C	ENSP00000343034.7:p.Lys656Gln
ENST00000404875.7:n.2668A>C
ENST00000423007.6:c.2185A>C	ENSP00000404119.2:p.Lys729Gln
ENST00000677295.2:c.*2472A>C	ENSP00000504346.2:n.*2472A>C
ENST00000678264.2:c.*2311A>C	ENSP00000503157.2:n.*2311A>C
ENST00000682070.1:n.2438A>C
ENST00000682639.1:c.125A>C
ENST00000682813.1:n.2525A>C
ENST00000683231.1:c.125A>C
ENST00000683392.1:n.4720A>C
ENST00000683712.1:n.2533A>C
ENST00000683900.1:n.4028A>C
ENST00000684062.1:n.2794A>C
ENST00000684399.1:c.125A>C
ENST00000684579.1:n.3974A>C
ENST00000341012.12:c.1966A>C	ENSP00000343034.7:p.Lys656Gln
ENST00000372220.5:c.997A>C	ENSP00000361294.5:p.Lys333Gln
ENST00000372228.9:c.2194A>C	ENSP00000361302.3:p.Lys732Gln
ENST00000402686.8:c.2128A>C MANE Select	ENSP00000385797.4:p.Lys710Gln
ENST00000676640.1:c.2128A>C	ENSP00000503281.1:p.Lys710Gln
ENST00000676803.1:c.1189A>C	ENSP00000503093.1:p.Lys397Gln
ENST00000676835.1:c.*1343A>C	ENSP00000502911.1:n.*1343A>C
ENST00000677029.1:c.1672A>C	ENSP00000502936.1:p.Lys558Gln
ENST00000677099.1:c.*1838A>C	ENSP00000504553.1:n.*1838A>C
ENST00000677216.1:c.1777A>C	ENSP00000503772.1:p.Lys593Gln
ENST00000677295.1:c.*1350A>C	ENSP00000504346.1:n.*1350A>C
ENST00000677444.1:c.2073A>C
ENST00000677586.1:n.1495A>C
ENST00000677626.1:c.1777A>C	ENSP00000503552.1:p.Lys593Gln
ENST00000677853.1:c.*1136A>C	ENSP00000503488.1:n.*1136A>C
ENST00000678264.1:c.*1505A>C	ENSP00000503157.1:n.*1505A>C
ENST00000678303.1:c.2038A>C	ENSP00000503696.1:p.Lys680Gln
ENST00000678366.1:c.*2377A>C	ENSP00000504353.1:n.*2377A>C
ENST00000678546.1:c.*2073A>C	ENSP00000503062.1:n.*2073A>C
ENST00000678548.1:c.*2267A>C	ENSP00000503934.1:n.*2267A>C
ENST00000678626.1:n.1964A>C
ENST00000678739.1:c.*2294A>C	ENSP00000503806.1:n.*2294A>C
ENST00000678833.1:c.*1880A>C	ENSP00000503893.1:n.*1880A>C
ENST00000679023.1:c.1966A>C	ENSP00000503718.1:p.Lys656Gln
ENST00000679076.1:c.1747A>C
ENST00000679111.1:c.*884A>C	ENSP00000504257.1:n.*884A>C
ENST00000679189.1:c.1777A>C	ENSP00000503356.1:p.Lys593Gln
ENST00000341012.11:c.1966A>C	ENSP00000343034.7:p.Lys656Gln
ENST00000372220.4:c.991A>C	ENSP00000361294.4:p.Lys331Gln
ENST00000372228.7:c.2194A>C	ENSP00000361302.3:p.Lys732Gln
ENST00000402686.7:c.2128A>C	ENSP00000385797.3:p.Lys710Gln
ENST00000404875.6:c.1777A>C	ENSP00000384531.2:p.Lys593Gln
ENST00000423007.5:c.2128A>C	ENSP00000404119.1:p.Lys710Gln
ENST00000485278.5:n.2678A>C
NM_001077365.1:c.2128A>C	NP_001070833.1:p.Lys710Gln
NM_001077366.1:c.1966A>C	NP_001070834.1:p.Lys656Gln
NM_001136113.1:c.2128A>C	NP_001129585.1:p.Lys710Gln
NM_001136114.1:c.1777A>C	NP_001129586.1:p.Lys593Gln
NM_007171.3:c.2194A>C	NP_009102.3:p.Lys732Gln
XM_005272156.1:c.2194A>C	XP_005272213.1:p.Lys732Gln
XM_005272158.1:c.2032A>C	XP_005272215.1:p.Lys678Gln
XM_005272159.1:c.1843A>C	XP_005272216.1:p.Lys615Gln
XM_005272162.1:c.997A>C	XP_005272219.1:p.Lys333Gln
XM_006716932.1:c.1843A>C	XP_006716995.1:p.Lys615Gln
XM_011518140.1:c.2047A>C	XP_011516442.1:p.Lys683Gln
XM_011518141.1:c.1981A>C	XP_011516443.1:p.Lys661Gln
XM_011518142.1:c.1885A>C	XP_011516444.1:p.Lys629Gln
XM_011518143.1:c.1879A>C	XP_011516445.1:p.Lys627Gln
XM_011518145.1:c.1738A>C	XP_011516447.1:p.Lys580Gln
XM_011518147.1:c.1066A>C	XP_011516449.1:p.Lys356Gln
XR_929703.1:n.2370A>C
NM_001353193.1:c.2194A>C	NP_001340122.1:p.Lys732Gln
NM_001353194.1:c.1966A>C	NP_001340123.1:p.Lys656Gln
NM_001353195.1:c.1777A>C	NP_001340124.1:p.Lys593Gln
NM_001353196.1:c.2038A>C	NP_001340125.1:p.Lys680Gln
NM_001353197.1:c.2032A>C	NP_001340126.1:p.Lys678Gln
NM_001353198.1:c.2032A>C	NP_001340127.1:p.Lys678Gln
NM_001353199.1:c.1843A>C	NP_001340128.1:p.Lys615Gln
NM_001353200.1:c.1672A>C	NP_001340129.1:p.Lys558Gln
NR_148391.1:n.2178A>C
NR_148392.1:n.2396A>C
NR_148393.1:n.2317A>C
NR_148394.1:n.2071A>C
NR_148395.1:n.2469A>C
NR_148396.1:n.2103A>C
NR_148397.1:n.2228A>C
NR_148398.1:n.2183A>C
NR_148399.1:n.2709A>C
NR_148400.1:n.2308A>C
XM_005272162.3:c.997A>C	XP_005272219.1:p.Lys333Gln
XM_006716932.2:c.1843A>C	XP_006716995.1:p.Lys615Gln
XM_011518140.2:c.2047A>C	XP_011516442.1:p.Lys683Gln
XM_011518141.2:c.1981A>C	XP_011516443.1:p.Lys661Gln
XM_011518142.2:c.1885A>C	XP_011516444.1:p.Lys629Gln
XM_011518143.2:c.1879A>C	XP_011516445.1:p.Lys627Gln
XM_011518145.2:c.1738A>C	XP_011516447.1:p.Lys580Gln
XM_017014205.2:c.997A>C	XP_016869694.1:p.Lys333Gln
XM_024447380.1:c.997A>C	XP_024303148.1:p.Lys333Gln
XM_024447381.1:c.1303A>C	XP_024303149.1:p.Lys435Gln
XM_024447382.1:c.997A>C	XP_024303150.1:p.Lys333Gln
XR_001746160.2:n.2298A>C
XR_001746162.2:n.2503A>C
XR_001746164.1:n.2220A>C
XR_001746166.2:n.2515A>C
NM_001077365.2:c.2128A>C MANE Select	NP_001070833.1:p.Lys710Gln
NM_001077366.2:c.1966A>C	NP_001070834.1:p.Lys656Gln
NM_001136113.2:c.2128A>C	NP_001129585.1:p.Lys710Gln
NM_001136114.2:c.1777A>C	NP_001129586.1:p.Lys593Gln
NM_001353193.2:c.2194A>C	NP_001340122.2:p.Lys732Gln
NM_001353194.2:c.1966A>C	NP_001340123.1:p.Lys656Gln
NM_001353195.2:c.1777A>C	NP_001340124.1:p.Lys593Gln
NM_001353196.2:c.2038A>C	NP_001340125.1:p.Lys680Gln
NM_001353197.2:c.2032A>C	NP_001340126.2:p.Lys678Gln
NM_001353198.2:c.2032A>C	NP_001340127.2:p.Lys678Gln
NM_001353199.2:c.1843A>C	NP_001340128.2:p.Lys615Gln
NM_001353200.2:c.1672A>C	NP_001340129.1:p.Lys558Gln
NM_001374689.1:c.2116A>C	NP_001361618.1:p.Lys706Gln
NM_001374690.1:c.1909A>C	NP_001361619.1:p.Lys637Gln
NM_001374691.1:c.1777A>C	NP_001361620.1:p.Lys593Gln
NM_001374692.1:c.1777A>C	NP_001361621.1:p.Lys593Gln
NM_001374693.1:c.1777A>C	NP_001361622.1:p.Lys593Gln
NM_001374695.1:c.1738A>C	NP_001361624.1:p.Lys580Gln
NM_007171.4:c.2194A>C	NP_009102.4:p.Lys732Gln
NR_148391.2:n.2162A>C
NR_148392.2:n.2380A>C
NR_148393.2:n.2301A>C
NR_148394.2:n.2055A>C
NR_148395.2:n.2453A>C
NR_148396.2:n.2087A>C
NR_148397.2:n.2212A>C
NR_148398.2:n.2167A>C
NR_148399.2:n.2693A>C
NR_148400.2:n.2292A>C

Linked Data

Genomic Alleles

Transcript Alleles