Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521453T>A , CM000671.2:g.131521453T>A	GRCh38
NC_000009.11:g.134396840T>A , CM000671.1:g.134396840T>A	GRCh37
NC_000009.10:g.133386661T>A	NCBI36
NG_008896.1:g.23552T>A
NG_008896.2:g.23552T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1644T>A	ENSP00000343034.7:p.Asn548Lys
ENST00000404875.7:n.2346T>A
ENST00000423007.6:c.1863T>A	ENSP00000404119.2:p.Asn621Lys
ENST00000677295.2:c.*2150T>A	ENSP00000504346.2:n.*2150T>A
ENST00000678264.2:c.*1989T>A	ENSP00000503157.2:n.*1989T>A
ENST00000682070.1:n.2271T>A
ENST00000682813.1:n.2210T>A
ENST00000683392.1:n.4553T>A
ENST00000683712.1:n.2211T>A
ENST00000683900.1:n.3706T>A
ENST00000684062.1:n.2472T>A
ENST00000684579.1:n.3652T>A
ENST00000684679.1:n.1033T>A
ENST00000341012.12:c.1644T>A	ENSP00000343034.7:p.Asn548Lys
ENST00000372220.5:c.675T>A	ENSP00000361294.5:p.Asn225Lys
ENST00000372228.9:c.1872T>A	ENSP00000361302.3:p.Asn624Lys
ENST00000402686.8:c.1806T>A MANE Select	ENSP00000385797.4:p.Asn602Lys
ENST00000676640.1:c.1806T>A	ENSP00000503281.1:p.Asn602Lys
ENST00000676803.1:c.867T>A	ENSP00000503093.1:p.Asn289Lys
ENST00000676835.1:c.*1021T>A	ENSP00000502911.1:n.*1021T>A
ENST00000677029.1:c.1350T>A	ENSP00000502936.1:p.Asn450Lys
ENST00000677099.1:c.*1516T>A	ENSP00000504553.1:n.*1516T>A
ENST00000677216.1:c.1455T>A	ENSP00000503772.1:p.Asn485Lys
ENST00000677221.1:n.831T>A
ENST00000677295.1:c.*1183T>A	ENSP00000504346.1:n.*1183T>A
ENST00000677444.1:c.1751T>A
ENST00000677586.1:n.1173T>A
ENST00000677626.1:c.1455T>A	ENSP00000503552.1:p.Asn485Lys
ENST00000677853.1:c.*814T>A	ENSP00000503488.1:n.*814T>A
ENST00000678202.1:n.965T>A
ENST00000678264.1:c.*1183T>A	ENSP00000503157.1:n.*1183T>A
ENST00000678303.1:c.1716T>A	ENSP00000503696.1:p.Asn572Lys
ENST00000678366.1:c.*2055T>A	ENSP00000504353.1:n.*2055T>A
ENST00000678546.1:c.*1751T>A	ENSP00000503062.1:n.*1751T>A
ENST00000678548.1:c.*1878T>A	ENSP00000503934.1:n.*1878T>A
ENST00000678626.1:n.1642T>A
ENST00000678739.1:c.*2127T>A	ENSP00000503806.1:n.*2127T>A
ENST00000678833.1:c.*1558T>A	ENSP00000503893.1:n.*1558T>A
ENST00000679023.1:c.1644T>A	ENSP00000503718.1:p.Asn548Lys
ENST00000679076.1:c.1425T>A
ENST00000679111.1:c.*562T>A	ENSP00000504257.1:n.*562T>A
ENST00000679189.1:c.1455T>A	ENSP00000503356.1:p.Asn485Lys
ENST00000341012.11:c.1644T>A	ENSP00000343034.7:p.Asn548Lys
ENST00000372220.4:c.669T>A	ENSP00000361294.4:p.Asn223Lys
ENST00000372228.7:c.1872T>A	ENSP00000361302.3:p.Asn624Lys
ENST00000402686.7:c.1806T>A	ENSP00000385797.3:p.Asn602Lys
ENST00000404875.6:c.1455T>A	ENSP00000384531.2:p.Asn485Lys
ENST00000423007.5:c.1806T>A	ENSP00000404119.1:p.Asn602Lys
ENST00000485278.5:n.2356T>A
ENST00000494883.1:n.349T>A
NM_001077365.1:c.1806T>A	NP_001070833.1:p.Asn602Lys
NM_001077366.1:c.1644T>A	NP_001070834.1:p.Asn548Lys
NM_001136113.1:c.1806T>A	NP_001129585.1:p.Asn602Lys
NM_001136114.1:c.1455T>A	NP_001129586.1:p.Asn485Lys
NM_007171.3:c.1872T>A	NP_009102.3:p.Asn624Lys
XM_005272156.1:c.1872T>A	XP_005272213.1:p.Asn624Lys
XM_005272158.1:c.1710T>A	XP_005272215.1:p.Asn570Lys
XM_005272159.1:c.1521T>A	XP_005272216.1:p.Asn507Lys
XM_005272162.1:c.675T>A	XP_005272219.1:p.Asn225Lys
XM_006716932.1:c.1521T>A	XP_006716995.1:p.Asn507Lys
XM_011518140.1:c.1725T>A	XP_011516442.1:p.Asn575Lys
XM_011518141.1:c.1659T>A	XP_011516443.1:p.Asn553Lys
XM_011518142.1:c.1563T>A	XP_011516444.1:p.Asn521Lys
XM_011518143.1:c.1557T>A	XP_011516445.1:p.Asn519Lys
XM_011518145.1:c.1416T>A	XP_011516447.1:p.Asn472Lys
XM_011518147.1:c.744T>A	XP_011516449.1:p.Asn248Lys
XR_929703.1:n.2048T>A
NM_001353193.1:c.1872T>A	NP_001340122.1:p.Asn624Lys
NM_001353194.1:c.1644T>A	NP_001340123.1:p.Asn548Lys
NM_001353195.1:c.1455T>A	NP_001340124.1:p.Asn485Lys
NM_001353196.1:c.1716T>A	NP_001340125.1:p.Asn572Lys
NM_001353197.1:c.1710T>A	NP_001340126.1:p.Asn570Lys
NM_001353198.1:c.1710T>A	NP_001340127.1:p.Asn570Lys
NM_001353199.1:c.1521T>A	NP_001340128.1:p.Asn507Lys
NM_001353200.1:c.1350T>A	NP_001340129.1:p.Asn450Lys
NR_148391.1:n.1856T>A
NR_148392.1:n.2074T>A
NR_148393.1:n.1995T>A
NR_148394.1:n.1749T>A
NR_148395.1:n.2147T>A
NR_148396.1:n.1781T>A
NR_148397.1:n.1906T>A
NR_148398.1:n.1861T>A
NR_148399.1:n.2387T>A
NR_148400.1:n.1986T>A
XM_005272162.3:c.675T>A	XP_005272219.1:p.Asn225Lys
XM_006716932.2:c.1521T>A	XP_006716995.1:p.Asn507Lys
XM_011518140.2:c.1725T>A	XP_011516442.1:p.Asn575Lys
XM_011518141.2:c.1659T>A	XP_011516443.1:p.Asn553Lys
XM_011518142.2:c.1563T>A	XP_011516444.1:p.Asn521Lys
XM_011518143.2:c.1557T>A	XP_011516445.1:p.Asn519Lys
XM_011518145.2:c.1416T>A	XP_011516447.1:p.Asn472Lys
XM_017014205.2:c.675T>A	XP_016869694.1:p.Asn225Lys
XM_024447380.1:c.675T>A	XP_024303148.1:p.Asn225Lys
XM_024447381.1:c.981T>A	XP_024303149.1:p.Asn327Lys
XM_024447382.1:c.675T>A	XP_024303150.1:p.Asn225Lys
XR_001746160.2:n.1976T>A
XR_001746162.2:n.2181T>A
XR_001746164.1:n.1898T>A
XR_001746166.2:n.2193T>A
NM_001077365.2:c.1806T>A MANE Select	NP_001070833.1:p.Asn602Lys
NM_001077366.2:c.1644T>A	NP_001070834.1:p.Asn548Lys
NM_001136113.2:c.1806T>A	NP_001129585.1:p.Asn602Lys
NM_001136114.2:c.1455T>A	NP_001129586.1:p.Asn485Lys
NM_001353193.2:c.1872T>A	NP_001340122.2:p.Asn624Lys
NM_001353194.2:c.1644T>A	NP_001340123.1:p.Asn548Lys
NM_001353195.2:c.1455T>A	NP_001340124.1:p.Asn485Lys
NM_001353196.2:c.1716T>A	NP_001340125.1:p.Asn572Lys
NM_001353197.2:c.1710T>A	NP_001340126.2:p.Asn570Lys
NM_001353198.2:c.1710T>A	NP_001340127.2:p.Asn570Lys
NM_001353199.2:c.1521T>A	NP_001340128.2:p.Asn507Lys
NM_001353200.2:c.1350T>A	NP_001340129.1:p.Asn450Lys
NM_001374689.1:c.1794T>A	NP_001361618.1:p.Asn598Lys
NM_001374690.1:c.1587T>A	NP_001361619.1:p.Asn529Lys
NM_001374691.1:c.1455T>A	NP_001361620.1:p.Asn485Lys
NM_001374692.1:c.1455T>A	NP_001361621.1:p.Asn485Lys
NM_001374693.1:c.1455T>A	NP_001361622.1:p.Asn485Lys
NM_001374695.1:c.1416T>A	NP_001361624.1:p.Asn472Lys
NM_007171.4:c.1872T>A	NP_009102.4:p.Asn624Lys
NR_148391.2:n.1840T>A
NR_148392.2:n.2058T>A
NR_148393.2:n.1979T>A
NR_148394.2:n.1733T>A
NR_148395.2:n.2131T>A
NR_148396.2:n.1765T>A
NR_148397.2:n.1890T>A
NR_148398.2:n.1845T>A
NR_148399.2:n.2371T>A
NR_148400.2:n.1970T>A

Linked Data

Genomic Alleles

Transcript Alleles