Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522937A>C , CM000671.2:g.131522937A>C	GRCh38
NC_000009.11:g.134398324A>C , CM000671.1:g.134398324A>C	GRCh37
NC_000009.10:g.133388145A>C	NCBI36
NG_008896.1:g.25036A>C
NG_008896.2:g.25036A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1847A>C	ENSP00000343034.7:p.Gln616Pro
ENST00000404875.7:n.2549A>C
ENST00000423007.6:c.2066A>C	ENSP00000404119.2:p.Gln689Pro
ENST00000677295.2:c.*2353A>C	ENSP00000504346.2:n.*2353A>C
ENST00000678264.2:c.*2192A>C	ENSP00000503157.2:n.*2192A>C
ENST00000682070.1:n.2319A>C
ENST00000682639.1:c.6A>C
ENST00000682813.1:n.2408-2A>C
ENST00000683231.1:c.6A>C
ENST00000683392.1:n.4601A>C
ENST00000683712.1:n.2414A>C
ENST00000683900.1:n.3909A>C
ENST00000684062.1:n.2675A>C
ENST00000684399.1:c.6A>C
ENST00000684579.1:n.3855A>C
ENST00000341012.12:c.1847A>C	ENSP00000343034.7:p.Gln616Pro
ENST00000372220.5:c.878A>C	ENSP00000361294.5:p.Gln293Pro
ENST00000372228.9:c.2075A>C	ENSP00000361302.3:p.Gln692Pro
ENST00000402686.8:c.2009A>C MANE Select	ENSP00000385797.4:p.Gln670Pro
ENST00000676640.1:c.2009A>C	ENSP00000503281.1:p.Gln670Pro
ENST00000676803.1:c.1070A>C	ENSP00000503093.1:p.Gln357Pro
ENST00000676835.1:c.*1224A>C	ENSP00000502911.1:n.*1224A>C
ENST00000677029.1:c.1553A>C	ENSP00000502936.1:p.Gln518Pro
ENST00000677099.1:c.*1719A>C	ENSP00000504553.1:n.*1719A>C
ENST00000677216.1:c.1658A>C	ENSP00000503772.1:p.Gln553Pro
ENST00000677221.1:n.1034A>C
ENST00000677295.1:c.*1231A>C	ENSP00000504346.1:n.*1231A>C
ENST00000677444.1:c.1954A>C
ENST00000677586.1:n.1376A>C
ENST00000677626.1:c.1658A>C	ENSP00000503552.1:p.Gln553Pro
ENST00000677853.1:c.*1017A>C	ENSP00000503488.1:n.*1017A>C
ENST00000678264.1:c.*1386A>C	ENSP00000503157.1:n.*1386A>C
ENST00000678303.1:c.1919A>C	ENSP00000503696.1:p.Gln640Pro
ENST00000678366.1:c.*2258A>C	ENSP00000504353.1:n.*2258A>C
ENST00000678546.1:c.*1954A>C	ENSP00000503062.1:n.*1954A>C
ENST00000678548.1:c.*2148A>C	ENSP00000503934.1:n.*2148A>C
ENST00000678626.1:n.1845A>C
ENST00000678739.1:c.*2175A>C	ENSP00000503806.1:n.*2175A>C
ENST00000678833.1:c.*1761A>C	ENSP00000503893.1:n.*1761A>C
ENST00000679023.1:c.1847A>C	ENSP00000503718.1:p.Gln616Pro
ENST00000679076.1:c.1628A>C
ENST00000679111.1:c.*765A>C	ENSP00000504257.1:n.*765A>C
ENST00000679189.1:c.1658A>C	ENSP00000503356.1:p.Gln553Pro
ENST00000341012.11:c.1847A>C	ENSP00000343034.7:p.Gln616Pro
ENST00000372220.4:c.872A>C	ENSP00000361294.4:p.Gln291Pro
ENST00000372228.7:c.2075A>C	ENSP00000361302.3:p.Gln692Pro
ENST00000402686.7:c.2009A>C	ENSP00000385797.3:p.Gln670Pro
ENST00000404875.6:c.1658A>C	ENSP00000384531.2:p.Gln553Pro
ENST00000423007.5:c.2009A>C	ENSP00000404119.1:p.Gln670Pro
ENST00000485278.5:n.2559A>C
NM_001077365.1:c.2009A>C	NP_001070833.1:p.Gln670Pro
NM_001077366.1:c.1847A>C	NP_001070834.1:p.Gln616Pro
NM_001136113.1:c.2009A>C	NP_001129585.1:p.Gln670Pro
NM_001136114.1:c.1658A>C	NP_001129586.1:p.Gln553Pro
NM_007171.3:c.2075A>C	NP_009102.3:p.Gln692Pro
XM_005272156.1:c.2075A>C	XP_005272213.1:p.Gln692Pro
XM_005272158.1:c.1913A>C	XP_005272215.1:p.Gln638Pro
XM_005272159.1:c.1724A>C	XP_005272216.1:p.Gln575Pro
XM_005272162.1:c.878A>C	XP_005272219.1:p.Gln293Pro
XM_006716932.1:c.1724A>C	XP_006716995.1:p.Gln575Pro
XM_011518140.1:c.1928A>C	XP_011516442.1:p.Gln643Pro
XM_011518141.1:c.1862A>C	XP_011516443.1:p.Gln621Pro
XM_011518142.1:c.1766A>C	XP_011516444.1:p.Gln589Pro
XM_011518143.1:c.1760A>C	XP_011516445.1:p.Gln587Pro
XM_011518145.1:c.1619A>C	XP_011516447.1:p.Gln540Pro
XM_011518147.1:c.947A>C	XP_011516449.1:p.Gln316Pro
XR_929703.1:n.2251A>C
NM_001353193.1:c.2075A>C	NP_001340122.1:p.Gln692Pro
NM_001353194.1:c.1847A>C	NP_001340123.1:p.Gln616Pro
NM_001353195.1:c.1658A>C	NP_001340124.1:p.Gln553Pro
NM_001353196.1:c.1919A>C	NP_001340125.1:p.Gln640Pro
NM_001353197.1:c.1913A>C	NP_001340126.1:p.Gln638Pro
NM_001353198.1:c.1913A>C	NP_001340127.1:p.Gln638Pro
NM_001353199.1:c.1724A>C	NP_001340128.1:p.Gln575Pro
NM_001353200.1:c.1553A>C	NP_001340129.1:p.Gln518Pro
NR_148391.1:n.2059A>C
NR_148392.1:n.2277A>C
NR_148393.1:n.2198A>C
NR_148394.1:n.1952A>C
NR_148395.1:n.2350A>C
NR_148396.1:n.1984A>C
NR_148397.1:n.2109A>C
NR_148398.1:n.2064A>C
NR_148399.1:n.2590A>C
NR_148400.1:n.2189A>C
XM_005272162.3:c.878A>C	XP_005272219.1:p.Gln293Pro
XM_006716932.2:c.1724A>C	XP_006716995.1:p.Gln575Pro
XM_011518140.2:c.1928A>C	XP_011516442.1:p.Gln643Pro
XM_011518141.2:c.1862A>C	XP_011516443.1:p.Gln621Pro
XM_011518142.2:c.1766A>C	XP_011516444.1:p.Gln589Pro
XM_011518143.2:c.1760A>C	XP_011516445.1:p.Gln587Pro
XM_011518145.2:c.1619A>C	XP_011516447.1:p.Gln540Pro
XM_017014205.2:c.878A>C	XP_016869694.1:p.Gln293Pro
XM_024447380.1:c.878A>C	XP_024303148.1:p.Gln293Pro
XM_024447381.1:c.1184A>C	XP_024303149.1:p.Gln395Pro
XM_024447382.1:c.878A>C	XP_024303150.1:p.Gln293Pro
XR_001746160.2:n.2179A>C
XR_001746162.2:n.2384A>C
XR_001746164.1:n.2101A>C
XR_001746166.2:n.2396A>C
NM_001077365.2:c.2009A>C MANE Select	NP_001070833.1:p.Gln670Pro
NM_001077366.2:c.1847A>C	NP_001070834.1:p.Gln616Pro
NM_001136113.2:c.2009A>C	NP_001129585.1:p.Gln670Pro
NM_001136114.2:c.1658A>C	NP_001129586.1:p.Gln553Pro
NM_001353193.2:c.2075A>C	NP_001340122.2:p.Gln692Pro
NM_001353194.2:c.1847A>C	NP_001340123.1:p.Gln616Pro
NM_001353195.2:c.1658A>C	NP_001340124.1:p.Gln553Pro
NM_001353196.2:c.1919A>C	NP_001340125.1:p.Gln640Pro
NM_001353197.2:c.1913A>C	NP_001340126.2:p.Gln638Pro
NM_001353198.2:c.1913A>C	NP_001340127.2:p.Gln638Pro
NM_001353199.2:c.1724A>C	NP_001340128.2:p.Gln575Pro
NM_001353200.2:c.1553A>C	NP_001340129.1:p.Gln518Pro
NM_001374689.1:c.1997A>C	NP_001361618.1:p.Gln666Pro
NM_001374690.1:c.1790A>C	NP_001361619.1:p.Gln597Pro
NM_001374691.1:c.1658A>C	NP_001361620.1:p.Gln553Pro
NM_001374692.1:c.1658A>C	NP_001361621.1:p.Gln553Pro
NM_001374693.1:c.1658A>C	NP_001361622.1:p.Gln553Pro
NM_001374695.1:c.1619A>C	NP_001361624.1:p.Gln540Pro
NM_007171.4:c.2075A>C	NP_009102.4:p.Gln692Pro
NR_148391.2:n.2043A>C
NR_148392.2:n.2261A>C
NR_148393.2:n.2182A>C
NR_148394.2:n.1936A>C
NR_148395.2:n.2334A>C
NR_148396.2:n.1968A>C
NR_148397.2:n.2093A>C
NR_148398.2:n.2048A>C
NR_148399.2:n.2574A>C
NR_148400.2:n.2173A>C

Linked Data

Genomic Alleles

Transcript Alleles