Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9688949A>C , CM000665.2:g.9688949A>C	GRCh38
NC_000003.11:g.9730633A>C , CM000665.1:g.9730633A>C	GRCh37
NC_000003.10:g.9705633A>C	NCBI36
NG_017068.1:g.44517A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000296003.9:c.1300A>C MANE Select	ENSP00000296003.5:p.Lys434Gln
ENST00000296003.8:c.1300A>C	ENSP00000296003.4:p.Lys434Gln
ENST00000351233.9:c.1300A>C	ENSP00000334070.7:p.Lys434Gln
ENST00000353332.9:c.1300A>C	ENSP00000323462.8:p.Lys434Gln
ENST00000414996.1:c.*657A>C	ENSP00000392935.1:n.*657A>C
ENST00000420925.5:c.562A>C	ENSP00000401993.1:p.Lys188Gln
ENST00000447144.5:c.*273A>C	ENSP00000410761.1:n.*273A>C
ENST00000617504.4:c.1300A>C	ENSP00000478236.1:p.Lys434Gln
NM_001077525.2:c.1300A>C	NP_001070993.1:p.Lys434Gln
NM_001077526.2:c.1300A>C	NP_001070994.1:p.Lys434Gln
NM_022485.4:c.1300A>C	NP_071930.2:p.Lys434Gln
XM_005265400.1:c.1225A>C	XP_005265457.1:p.Lys409Gln
XM_011534012.1:c.1018A>C	XP_011532314.1:p.Lys340Gln
XM_011534013.1:c.937A>C	XP_011532315.1:p.Lys313Gln
XR_245152.1:n.1424A>C
XM_005265400.2:c.1225A>C	XP_005265457.1:p.Lys409Gln
XM_017007034.1:c.1369A>C	XP_016862523.1:p.Lys457Gln
XM_017007035.1:c.1294A>C	XP_016862524.1:p.Lys432Gln
XM_017007036.1:c.1369A>C	XP_016862525.1:p.Lys457Gln
XM_017007037.1:c.1294A>C	XP_016862526.1:p.Lys432Gln
XM_017007038.2:c.1225A>C	XP_016862527.1:p.Lys409Gln
XM_017007039.1:c.1369A>C	XP_016862528.1:p.Lys457Gln
XM_017007040.1:c.1294A>C	XP_016862529.1:p.Lys432Gln
XM_017007041.1:c.943A>C	XP_016862530.1:p.Lys315Gln
XM_017007042.2:c.1225A>C	XP_016862531.1:p.Lys409Gln
XM_017007043.1:c.1018A>C	XP_016862532.1:p.Lys340Gln
XM_017007044.2:c.583A>C	XP_016862533.1:p.Lys195Gln
XM_017007045.2:c.658A>C	XP_016862534.1:p.Lys220Gln
XM_024453709.1:c.937A>C	XP_024309477.1:p.Lys313Gln
XM_024453710.1:c.658A>C	XP_024309478.1:p.Lys220Gln
XR_001740231.1:n.1620A>C
XR_001740232.1:n.1546A>C
XR_001740233.2:n.1336A>C
XR_245152.2:n.1411A>C
NM_001077525.3:c.1300A>C MANE Select	NP_001070993.1:p.Lys434Gln
NM_001077526.3:c.1300A>C	NP_001070994.1:p.Lys434Gln
NM_022485.5:c.1300A>C	NP_071930.2:p.Lys434Gln
NM_001400518.1:c.1369A>C	NP_001387447.1:p.Lys457Gln
NM_001400519.1:c.1297A>C	NP_001387448.1:p.Lys433Gln
NM_001400520.1:c.1225A>C	NP_001387449.1:p.Lys409Gln
NM_001400521.1:c.1369A>C	NP_001387450.1:p.Lys457Gln
NM_001400522.1:c.1297A>C	NP_001387451.1:p.Lys433Gln
NM_001400523.1:c.1225A>C	NP_001387452.1:p.Lys409Gln
NM_001400524.1:c.1054A>C	NP_001387453.1:p.Lys352Gln
NM_001400525.1:c.1018A>C	NP_001387454.1:p.Lys340Gln
NM_001400526.1:c.1294A>C	NP_001387455.1:p.Lys432Gln
NM_001400527.1:c.1054A>C	NP_001387456.1:p.Lys352Gln
NM_001400528.1:c.1225A>C	NP_001387457.1:p.Lys409Gln
NM_001400529.1:c.1018A>C	NP_001387458.1:p.Lys340Gln
NM_001400530.1:c.1054A>C	NP_001387459.1:p.Lys352Gln
NM_001400531.1:c.1051A>C	NP_001387460.1:p.Lys351Gln
NM_001400532.1:c.1018A>C	NP_001387461.1:p.Lys340Gln
NM_001400533.1:c.658A>C	NP_001387462.1:p.Lys220Gln
NM_001400534.1:c.658A>C	NP_001387463.1:p.Lys220Gln
NM_001400535.1:c.658A>C	NP_001387464.1:p.Lys220Gln
NM_001400536.1:c.979A>C	NP_001387465.1:p.Lys327Gln
NM_001400537.1:c.943A>C	NP_001387466.1:p.Lys315Gln
NM_001400538.1:c.583A>C	NP_001387467.1:p.Lys195Gln
NM_001400539.1:c.658A>C	NP_001387468.1:p.Lys220Gln
NM_001400540.1:c.658A>C	NP_001387469.1:p.Lys220Gln
NM_001400541.1:c.658A>C	NP_001387470.1:p.Lys220Gln
NM_001400542.1:c.658A>C	NP_001387471.1:p.Lys220Gln
NM_001400543.1:c.658A>C	NP_001387472.1:p.Lys220Gln
NM_001400544.1:c.439A>C	NP_001387473.1:p.Lys147Gln
NM_001400545.1:c.658A>C	NP_001387474.1:p.Lys220Gln
NM_001400546.1:c.658A>C	NP_001387475.1:p.Lys220Gln
NM_001400547.1:c.439A>C	NP_001387476.1:p.Lys147Gln
NM_001400548.1:c.439A>C	NP_001387477.1:p.Lys147Gln
NM_001400549.1:c.583A>C	NP_001387478.1:p.Lys195Gln
NM_001400550.1:c.439A>C	NP_001387479.1:p.Lys147Gln
NR_174503.1:n.1304A>C
NR_174504.1:n.1379A>C
NR_174505.1:n.987A>C
NR_174506.1:n.1167A>C
NR_174507.1:n.1233A>C
NR_174508.1:n.1233A>C
NR_174509.1:n.1133A>C
NR_174510.1:n.1230A>C
NR_174511.1:n.1303A>C

Linked Data

Genomic Alleles

Transcript Alleles