Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518854C>T , CM000671.2:g.131518854C>T	GRCh38
NC_000009.11:g.134394241C>T , CM000671.1:g.134394241C>T	GRCh37
NC_000009.10:g.133384062C>T	NCBI36
NG_008896.1:g.20953C>T
NG_008896.2:g.20953C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1221C>T	ENSP00000343034.7:p.Leu407=
ENST00000404875.7:n.1923C>T
ENST00000423007.6:c.1440C>T	ENSP00000404119.2:p.Leu480=
ENST00000677295.2:c.*1727C>T	ENSP00000504346.2:n.*1727C>T
ENST00000678264.2:c.*1566C>T	ENSP00000503157.2:n.*1566C>T
ENST00000682070.1:n.1848C>T
ENST00000682539.1:c.321C>T
ENST00000682813.1:n.1787C>T
ENST00000683392.1:n.4130C>T
ENST00000683712.1:n.1788C>T
ENST00000683900.1:n.3283C>T
ENST00000684062.1:n.2049C>T
ENST00000684579.1:n.3229C>T
ENST00000684679.1:n.610C>T
ENST00000341012.12:c.1221C>T	ENSP00000343034.7:p.Leu407=
ENST00000372220.5:c.252C>T	ENSP00000361294.5:p.Leu84=
ENST00000372228.9:c.1449C>T	ENSP00000361302.3:p.Leu483=
ENST00000402686.8:c.1383C>T MANE Select	ENSP00000385797.4:p.Leu461=
ENST00000676640.1:c.1383C>T	ENSP00000503281.1:p.Leu461=
ENST00000676803.1:c.558C>T	ENSP00000503093.1:p.Leu186=
ENST00000676835.1:c.*598C>T	ENSP00000502911.1:n.*598C>T
ENST00000677029.1:c.927C>T	ENSP00000502936.1:p.Leu309=
ENST00000677099.1:c.*1093C>T	ENSP00000504553.1:n.*1093C>T
ENST00000677216.1:c.1032C>T	ENSP00000503772.1:p.Leu344=
ENST00000677221.1:n.408C>T
ENST00000677295.1:c.*760C>T	ENSP00000504346.1:n.*760C>T
ENST00000677444.1:c.1328C>T
ENST00000677586.1:n.864C>T
ENST00000677626.1:c.1032C>T	ENSP00000503552.1:p.Leu344=
ENST00000677677.1:n.1343C>T
ENST00000677853.1:c.*391C>T	ENSP00000503488.1:n.*391C>T
ENST00000678202.1:n.542C>T
ENST00000678264.1:c.*760C>T	ENSP00000503157.1:n.*760C>T
ENST00000678303.1:c.1293C>T	ENSP00000503696.1:p.Leu431=
ENST00000678366.1:c.*1632C>T	ENSP00000504353.1:n.*1632C>T
ENST00000678546.1:c.*1328C>T	ENSP00000503062.1:n.*1328C>T
ENST00000678548.1:c.*1455C>T	ENSP00000503934.1:n.*1455C>T
ENST00000678626.1:n.1219C>T
ENST00000678733.1:c.464C>T
ENST00000678739.1:c.*1709C>T	ENSP00000503806.1:n.*1709C>T
ENST00000678833.1:c.*830C>T	ENSP00000503893.1:n.*830C>T
ENST00000679023.1:c.1221C>T	ENSP00000503718.1:p.Leu407=
ENST00000679076.1:c.1002C>T
ENST00000679111.1:c.*139C>T	ENSP00000504257.1:n.*139C>T
ENST00000679189.1:c.1032C>T	ENSP00000503356.1:p.Leu344=
ENST00000341012.11:c.1221C>T	ENSP00000343034.7:p.Leu407=
ENST00000372220.4:c.246C>T	ENSP00000361294.4:p.Leu82=
ENST00000372228.7:c.1449C>T	ENSP00000361302.3:p.Leu483=
ENST00000402686.7:c.1383C>T	ENSP00000385797.3:p.Leu461=
ENST00000404875.6:c.1032C>T	ENSP00000384531.2:p.Leu344=
ENST00000423007.5:c.1383C>T	ENSP00000404119.1:p.Leu461=
ENST00000467848.1:n.87C>T
ENST00000485278.5:n.1938C>T
NM_001077365.1:c.1383C>T	NP_001070833.1:p.Leu461=
NM_001077366.1:c.1221C>T	NP_001070834.1:p.Leu407=
NM_001136113.1:c.1383C>T	NP_001129585.1:p.Leu461=
NM_001136114.1:c.1032C>T	NP_001129586.1:p.Leu344=
NM_007171.3:c.1449C>T	NP_009102.3:p.Leu483=
XM_005272156.1:c.1449C>T	XP_005272213.1:p.Leu483=
XM_005272158.1:c.1287C>T	XP_005272215.1:p.Leu429=
XM_005272159.1:c.1098C>T	XP_005272216.1:p.Leu366=
XM_005272162.1:c.252C>T	XP_005272219.1:p.Leu84=
XM_006716932.1:c.1098C>T	XP_006716995.1:p.Leu366=
XM_011518140.1:c.1302C>T	XP_011516442.1:p.Leu434=
XM_011518141.1:c.1236C>T	XP_011516443.1:p.Leu412=
XM_011518142.1:c.1140C>T	XP_011516444.1:p.Leu380=
XM_011518143.1:c.1134C>T	XP_011516445.1:p.Leu378=
XM_011518144.1:c.*139C>T	XP_011516446.1:n.*139C>T
XM_011518145.1:c.993C>T	XP_011516447.1:p.Leu331=
XM_011518146.1:c.*139C>T	XP_011516448.1:n.*139C>T
XM_011518147.1:c.321C>T	XP_011516449.1:p.Leu107=
XR_929703.1:n.1625C>T
NM_001353193.1:c.1449C>T	NP_001340122.1:p.Leu483=
NM_001353194.1:c.1221C>T	NP_001340123.1:p.Leu407=
NM_001353195.1:c.1032C>T	NP_001340124.1:p.Leu344=
NM_001353196.1:c.1293C>T	NP_001340125.1:p.Leu431=
NM_001353197.1:c.1287C>T	NP_001340126.1:p.Leu429=
NM_001353198.1:c.1287C>T	NP_001340127.1:p.Leu429=
NM_001353199.1:c.1098C>T	NP_001340128.1:p.Leu366=
NM_001353200.1:c.927C>T	NP_001340129.1:p.Leu309=
NR_148391.1:n.1433C>T
NR_148392.1:n.1651C>T
NR_148393.1:n.1572C>T
NR_148394.1:n.1326C>T
NR_148395.1:n.1724C>T
NR_148396.1:n.1358C>T
NR_148397.1:n.1483C>T
NR_148398.1:n.1438C>T
NR_148399.1:n.1964C>T
NR_148400.1:n.1563C>T
XM_005272162.3:c.252C>T	XP_005272219.1:p.Leu84=
XM_006716932.2:c.1098C>T	XP_006716995.1:p.Leu366=
XM_011518140.2:c.1302C>T	XP_011516442.1:p.Leu434=
XM_011518141.2:c.1236C>T	XP_011516443.1:p.Leu412=
XM_011518142.2:c.1140C>T	XP_011516444.1:p.Leu380=
XM_011518143.2:c.1134C>T	XP_011516445.1:p.Leu378=
XM_011518145.2:c.993C>T	XP_011516447.1:p.Leu331=
XM_017014205.2:c.252C>T	XP_016869694.1:p.Leu84=
XM_024447380.1:c.252C>T	XP_024303148.1:p.Leu84=
XM_024447381.1:c.558C>T	XP_024303149.1:p.Leu186=
XM_024447382.1:c.252C>T	XP_024303150.1:p.Leu84=
XR_001746160.2:n.1553C>T
XR_001746162.2:n.1758C>T
XR_001746164.1:n.1475C>T
XR_001746166.2:n.1770C>T
NM_001077365.2:c.1383C>T MANE Select	NP_001070833.1:p.Leu461=
NM_001077366.2:c.1221C>T	NP_001070834.1:p.Leu407=
NM_001136113.2:c.1383C>T	NP_001129585.1:p.Leu461=
NM_001136114.2:c.1032C>T	NP_001129586.1:p.Leu344=
NM_001353193.2:c.1449C>T	NP_001340122.2:p.Leu483=
NM_001353194.2:c.1221C>T	NP_001340123.1:p.Leu407=
NM_001353195.2:c.1032C>T	NP_001340124.1:p.Leu344=
NM_001353196.2:c.1293C>T	NP_001340125.1:p.Leu431=
NM_001353197.2:c.1287C>T	NP_001340126.2:p.Leu429=
NM_001353198.2:c.1287C>T	NP_001340127.2:p.Leu429=
NM_001353199.2:c.1098C>T	NP_001340128.2:p.Leu366=
NM_001353200.2:c.927C>T	NP_001340129.1:p.Leu309=
NM_001374689.1:c.1371C>T	NP_001361618.1:p.Leu457=
NM_001374690.1:c.1365+317C>T	NP_001361619.1:n.1365+317C>T
NM_001374691.1:c.1032C>T	NP_001361620.1:p.Leu344=
NM_001374692.1:c.1032C>T	NP_001361621.1:p.Leu344=
NM_001374693.1:c.1032C>T	NP_001361622.1:p.Leu344=
NM_001374695.1:c.993C>T	NP_001361624.1:p.Leu331=
NM_007171.4:c.1449C>T	NP_009102.4:p.Leu483=
NR_148391.2:n.1417C>T
NR_148392.2:n.1635C>T
NR_148393.2:n.1556C>T
NR_148394.2:n.1310C>T
NR_148395.2:n.1708C>T
NR_148396.2:n.1342C>T
NR_148397.2:n.1467C>T
NR_148398.2:n.1422C>T
NR_148399.2:n.1948C>T
NR_148400.2:n.1547C>T

Linked Data

Genomic Alleles

Transcript Alleles