Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522125T>A , CM000671.2:g.131522125T>A	GRCh38
NC_000009.11:g.134397512T>A , CM000671.1:g.134397512T>A	GRCh37
NC_000009.10:g.133387333T>A	NCBI36
NG_008896.1:g.24224T>A
NG_008896.2:g.24224T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1742T>A	ENSP00000343034.7:p.Met581Lys
ENST00000404875.7:n.2444T>A
ENST00000423007.6:c.1961T>A	ENSP00000404119.2:p.Met654Lys
ENST00000677295.2:c.*2248T>A	ENSP00000504346.2:n.*2248T>A
ENST00000678264.2:c.*2087T>A	ENSP00000503157.2:n.*2087T>A
ENST00000682070.1:n.2291-77T>A
ENST00000682813.1:n.2308T>A
ENST00000683392.1:n.4573-77T>A
ENST00000683712.1:n.2309T>A
ENST00000683900.1:n.3804T>A
ENST00000684062.1:n.2570T>A
ENST00000684579.1:n.3750T>A
ENST00000684679.1:n.1131T>A
ENST00000341012.12:c.1742T>A	ENSP00000343034.7:p.Met581Lys
ENST00000372220.5:c.773T>A	ENSP00000361294.5:p.Met258Lys
ENST00000372228.9:c.1970T>A	ENSP00000361302.3:p.Met657Lys
ENST00000402686.8:c.1904T>A MANE Select	ENSP00000385797.4:p.Met635Lys
ENST00000676640.1:c.1904T>A	ENSP00000503281.1:p.Met635Lys
ENST00000676803.1:c.965T>A	ENSP00000503093.1:p.Met322Lys
ENST00000676835.1:c.*1119T>A	ENSP00000502911.1:n.*1119T>A
ENST00000677029.1:c.1448T>A	ENSP00000502936.1:p.Met483Lys
ENST00000677099.1:c.*1614T>A	ENSP00000504553.1:n.*1614T>A
ENST00000677216.1:c.1553T>A	ENSP00000503772.1:p.Met518Lys
ENST00000677221.1:n.929T>A
ENST00000677295.1:c.*1203-77T>A	ENSP00000504346.1:n.*1203-77T>A
ENST00000677444.1:c.1849T>A
ENST00000677586.1:n.1271T>A
ENST00000677626.1:c.1553T>A	ENSP00000503552.1:p.Met518Lys
ENST00000677853.1:c.*912T>A	ENSP00000503488.1:n.*912T>A
ENST00000678202.1:n.1063T>A
ENST00000678264.1:c.*1281T>A	ENSP00000503157.1:n.*1281T>A
ENST00000678303.1:c.1814T>A	ENSP00000503696.1:p.Met605Lys
ENST00000678366.1:c.*2153T>A	ENSP00000504353.1:n.*2153T>A
ENST00000678546.1:c.*1849T>A	ENSP00000503062.1:n.*1849T>A
ENST00000678548.1:c.*2043T>A	ENSP00000503934.1:n.*2043T>A
ENST00000678626.1:n.1740T>A
ENST00000678739.1:c.*2147-77T>A	ENSP00000503806.1:n.*2147-77T>A
ENST00000678833.1:c.*1656T>A	ENSP00000503893.1:n.*1656T>A
ENST00000679023.1:c.1742T>A	ENSP00000503718.1:p.Met581Lys
ENST00000679076.1:c.1523T>A
ENST00000679111.1:c.*660T>A	ENSP00000504257.1:n.*660T>A
ENST00000679189.1:c.1553T>A	ENSP00000503356.1:p.Met518Lys
ENST00000341012.11:c.1742T>A	ENSP00000343034.7:p.Met581Lys
ENST00000372220.4:c.767T>A	ENSP00000361294.4:p.Met256Lys
ENST00000372228.7:c.1970T>A	ENSP00000361302.3:p.Met657Lys
ENST00000402686.7:c.1904T>A	ENSP00000385797.3:p.Met635Lys
ENST00000404875.6:c.1553T>A	ENSP00000384531.2:p.Met518Lys
ENST00000423007.5:c.1904T>A	ENSP00000404119.1:p.Met635Lys
ENST00000485278.5:n.2454T>A
ENST00000494883.1:n.447T>A
NM_001077365.1:c.1904T>A	NP_001070833.1:p.Met635Lys
NM_001077366.1:c.1742T>A	NP_001070834.1:p.Met581Lys
NM_001136113.1:c.1904T>A	NP_001129585.1:p.Met635Lys
NM_001136114.1:c.1553T>A	NP_001129586.1:p.Met518Lys
NM_007171.3:c.1970T>A	NP_009102.3:p.Met657Lys
XM_005272156.1:c.1970T>A	XP_005272213.1:p.Met657Lys
XM_005272158.1:c.1808T>A	XP_005272215.1:p.Met603Lys
XM_005272159.1:c.1619T>A	XP_005272216.1:p.Met540Lys
XM_005272162.1:c.773T>A	XP_005272219.1:p.Met258Lys
XM_006716932.1:c.1619T>A	XP_006716995.1:p.Met540Lys
XM_011518140.1:c.1823T>A	XP_011516442.1:p.Met608Lys
XM_011518141.1:c.1757T>A	XP_011516443.1:p.Met586Lys
XM_011518142.1:c.1661T>A	XP_011516444.1:p.Met554Lys
XM_011518143.1:c.1655T>A	XP_011516445.1:p.Met552Lys
XM_011518145.1:c.1514T>A	XP_011516447.1:p.Met505Lys
XM_011518147.1:c.842T>A	XP_011516449.1:p.Met281Lys
XR_929703.1:n.2146T>A
NM_001353193.1:c.1970T>A	NP_001340122.1:p.Met657Lys
NM_001353194.1:c.1742T>A	NP_001340123.1:p.Met581Lys
NM_001353195.1:c.1553T>A	NP_001340124.1:p.Met518Lys
NM_001353196.1:c.1814T>A	NP_001340125.1:p.Met605Lys
NM_001353197.1:c.1808T>A	NP_001340126.1:p.Met603Lys
NM_001353198.1:c.1808T>A	NP_001340127.1:p.Met603Lys
NM_001353199.1:c.1619T>A	NP_001340128.1:p.Met540Lys
NM_001353200.1:c.1448T>A	NP_001340129.1:p.Met483Lys
NR_148391.1:n.1954T>A
NR_148392.1:n.2172T>A
NR_148393.1:n.2093T>A
NR_148394.1:n.1847T>A
NR_148395.1:n.2245T>A
NR_148396.1:n.1879T>A
NR_148397.1:n.2004T>A
NR_148398.1:n.1959T>A
NR_148399.1:n.2485T>A
NR_148400.1:n.2084T>A
XM_005272162.3:c.773T>A	XP_005272219.1:p.Met258Lys
XM_006716932.2:c.1619T>A	XP_006716995.1:p.Met540Lys
XM_011518140.2:c.1823T>A	XP_011516442.1:p.Met608Lys
XM_011518141.2:c.1757T>A	XP_011516443.1:p.Met586Lys
XM_011518142.2:c.1661T>A	XP_011516444.1:p.Met554Lys
XM_011518143.2:c.1655T>A	XP_011516445.1:p.Met552Lys
XM_011518145.2:c.1514T>A	XP_011516447.1:p.Met505Lys
XM_017014205.2:c.773T>A	XP_016869694.1:p.Met258Lys
XM_024447380.1:c.773T>A	XP_024303148.1:p.Met258Lys
XM_024447381.1:c.1079T>A	XP_024303149.1:p.Met360Lys
XM_024447382.1:c.773T>A	XP_024303150.1:p.Met258Lys
XR_001746160.2:n.2074T>A
XR_001746162.2:n.2279T>A
XR_001746164.1:n.1996T>A
XR_001746166.2:n.2291T>A
NM_001077365.2:c.1904T>A MANE Select	NP_001070833.1:p.Met635Lys
NM_001077366.2:c.1742T>A	NP_001070834.1:p.Met581Lys
NM_001136113.2:c.1904T>A	NP_001129585.1:p.Met635Lys
NM_001136114.2:c.1553T>A	NP_001129586.1:p.Met518Lys
NM_001353193.2:c.1970T>A	NP_001340122.2:p.Met657Lys
NM_001353194.2:c.1742T>A	NP_001340123.1:p.Met581Lys
NM_001353195.2:c.1553T>A	NP_001340124.1:p.Met518Lys
NM_001353196.2:c.1814T>A	NP_001340125.1:p.Met605Lys
NM_001353197.2:c.1808T>A	NP_001340126.2:p.Met603Lys
NM_001353198.2:c.1808T>A	NP_001340127.2:p.Met603Lys
NM_001353199.2:c.1619T>A	NP_001340128.2:p.Met540Lys
NM_001353200.2:c.1448T>A	NP_001340129.1:p.Met483Lys
NM_001374689.1:c.1892T>A	NP_001361618.1:p.Met631Lys
NM_001374690.1:c.1685T>A	NP_001361619.1:p.Met562Lys
NM_001374691.1:c.1553T>A	NP_001361620.1:p.Met518Lys
NM_001374692.1:c.1553T>A	NP_001361621.1:p.Met518Lys
NM_001374693.1:c.1553T>A	NP_001361622.1:p.Met518Lys
NM_001374695.1:c.1514T>A	NP_001361624.1:p.Met505Lys
NM_007171.4:c.1970T>A	NP_009102.4:p.Met657Lys
NR_148391.2:n.1938T>A
NR_148392.2:n.2156T>A
NR_148393.2:n.2077T>A
NR_148394.2:n.1831T>A
NR_148395.2:n.2229T>A
NR_148396.2:n.1863T>A
NR_148397.2:n.1988T>A
NR_148398.2:n.1943T>A
NR_148399.2:n.2469T>A
NR_148400.2:n.2068T>A

Linked Data

Genomic Alleles

Transcript Alleles