Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26464138A>T , CM000684.2:g.26464138A>T	GRCh38
NC_000022.10:g.26860104A>T , CM000684.1:g.26860104A>T	GRCh37
NC_000022.9:g.25190104A>T	NCBI36
NG_009763.2:g.24726T>A , LRG_590:g.24726T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422379.3:c.1546T>A	ENSP00000415081.3:p.Cys516Ser
ENST00000473782.2:c.1492T>A	ENSP00000514223.1:p.Cys498Ser
ENST00000483631.2:c.697T>A	ENSP00000514228.1:p.Cys233Ser
ENST00000491142.2:c.1492T>A	ENSP00000514221.1:p.Cys498Ser
ENST00000699226.1:n.4418T>A
ENST00000699227.1:c.*836T>A	ENSP00000514220.1:n.*836T>A
ENST00000699228.1:n.2042T>A
ENST00000699229.1:n.909T>A
ENST00000699230.1:n.2215T>A
ENST00000699231.1:n.4504T>A
ENST00000699232.1:n.2848T>A
ENST00000699233.1:n.1363T>A
ENST00000699234.1:c.*836T>A	ENSP00000514222.1:n.*836T>A
ENST00000699235.1:c.697T>A	ENSP00000514224.1:p.Cys233Ser
ENST00000699236.1:c.*681T>A	ENSP00000514225.1:n.*681T>A
ENST00000699237.1:c.*681T>A	ENSP00000514226.1:n.*681T>A
ENST00000699238.1:c.*1035T>A	ENSP00000514227.1:n.*1035T>A
ENST00000699239.1:n.4246T>A
ENST00000699240.1:c.*1149T>A	ENSP00000514229.1:n.*1149T>A
ENST00000699241.1:c.*1684T>A	ENSP00000514230.1:n.*1684T>A
ENST00000699242.1:c.1402T>A	ENSP00000514231.1:p.Cys468Ser
ENST00000699243.1:c.*836T>A	ENSP00000514232.1:n.*836T>A
ENST00000699244.1:c.1345T>A	ENSP00000514233.1:p.Cys449Ser
ENST00000699246.1:c.*863T>A	ENSP00000514234.1:n.*863T>A
ENST00000699247.1:c.669+4413T>A	ENSP00000514235.1:n.669+4413T>A
ENST00000699248.1:n.3562T>A
ENST00000699249.1:c.*836T>A	ENSP00000514236.1:n.*836T>A
ENST00000699250.1:c.1492T>A	ENSP00000514237.1:p.Cys498Ser
ENST00000699251.1:c.1492T>A	ENSP00000514238.1:p.Cys498Ser
ENST00000699252.1:n.2042T>A
ENST00000398145.7:c.1492T>A MANE Select	ENSP00000381213.2:p.Cys498Ser
ENST00000336873.9:c.1492T>A	ENSP00000338457.5:p.Cys498Ser
ENST00000398145.6:c.1492T>A	ENSP00000381213.2:p.Cys498Ser
ENST00000402105.7:c.1477T>A	ENSP00000384185.3:p.Cys493Ser
ENST00000429411.5:c.*1064T>A	ENSP00000399705.1:n.*1064T>A
ENST00000439453.5:c.*1010T>A	ENSP00000406764.1:n.*1010T>A
ENST00000464362.5:c.*1823T>A	ENSP00000430291.1:n.*1823T>A
ENST00000466781.5:n.4351T>A
ENST00000485842.5:n.404+4413T>A
ENST00000493455.6:n.55T>A
ENST00000496385.5:n.2258T>A
NM_022081.5:c.1492T>A , LRG_590t1:c.1492T>A	NP_071364.4:p.Cys498Ser
NM_152841.2:c.1477T>A , LRG_590t2:c.1477T>A	NP_690054.1:p.Cys493Ser
NR_073135.1:n.2178T>A
NR_073136.1:n.1940T>A
XM_006724353.2:c.1546T>A	XP_006724416.1:p.Cys516Ser
XM_006724354.2:c.1546T>A	XP_006724417.1:p.Cys516Ser
XM_006724360.2:c.979T>A	XP_006724423.1:p.Cys327Ser
XM_011530485.1:c.1624T>A	XP_011528787.1:p.Cys542Ser
XM_011530486.1:c.1624T>A	XP_011528788.1:p.Cys542Ser
XM_011530487.1:c.1624T>A	XP_011528789.1:p.Cys542Ser
XM_011530488.1:c.1624T>A	XP_011528790.1:p.Cys542Ser
XM_011530489.1:c.1624T>A	XP_011528791.1:p.Cys542Ser
XM_011530490.1:c.1570T>A	XP_011528792.1:p.Cys524Ser
XM_011530491.1:c.1624T>A	XP_011528793.1:p.Cys542Ser
XM_011530492.1:c.1624T>A	XP_011528794.1:p.Cys542Ser
XM_011530493.1:c.1624T>A	XP_011528795.1:p.Cys542Ser
XM_011530494.1:c.832T>A	XP_011528796.1:p.Cys278Ser
XM_011530495.1:c.979T>A	XP_011528797.1:p.Cys327Ser
XM_011530496.1:c.832T>A	XP_011528798.1:p.Cys278Ser
XR_937947.1:n.2283T>A
NM_001349896.1:c.1492T>A	NP_001336825.1:p.Cys498Ser
NM_001349898.1:c.1492T>A	NP_001336827.1:p.Cys498Ser
NM_001349899.1:c.1492T>A	NP_001336828.1:p.Cys498Ser
NM_001349900.1:c.1546T>A	NP_001336829.1:p.Cys516Ser
NM_001349901.1:c.1546T>A	NP_001336830.1:p.Cys516Ser
NM_001349902.1:c.1492T>A	NP_001336831.1:p.Cys498Ser
NM_001349903.1:c.1492T>A	NP_001336832.1:p.Cys498Ser
NM_001349904.1:c.1492T>A	NP_001336833.1:p.Cys498Ser
NM_001349905.1:c.1492T>A	NP_001336834.1:p.Cys498Ser
NR_146311.1:n.2269T>A
NR_146312.1:n.2094T>A
NR_146313.1:n.2114T>A
NR_146314.1:n.2245T>A
NR_146315.1:n.2185T>A
NR_146316.1:n.2160T>A
XM_006724360.3:c.979T>A	XP_006724423.1:p.Cys327Ser
XM_011530485.2:c.1624T>A	XP_011528787.1:p.Cys542Ser
XM_011530486.2:c.1624T>A	XP_011528788.1:p.Cys542Ser
XM_011530487.2:c.1624T>A	XP_011528789.1:p.Cys542Ser
XM_011530488.2:c.1624T>A	XP_011528790.1:p.Cys542Ser
XM_011530489.2:c.1624T>A	XP_011528791.1:p.Cys542Ser
XM_011530490.3:c.1570T>A	XP_011528792.1:p.Cys524Ser
XM_011530491.3:c.1624T>A	XP_011528793.1:p.Cys542Ser
XM_011530492.2:c.1624T>A	XP_011528794.1:p.Cys542Ser
XM_011530493.3:c.1624T>A	XP_011528795.1:p.Cys542Ser
XM_011530494.2:c.832T>A	XP_011528796.1:p.Cys278Ser
XM_011530495.2:c.979T>A	XP_011528797.1:p.Cys327Ser
XM_011530496.2:c.832T>A	XP_011528798.1:p.Cys278Ser
XM_017029045.2:c.1570T>A	XP_016884534.1:p.Cys524Ser
XM_017029046.2:c.1492T>A	XP_016884535.1:p.Cys498Ser
XM_017029047.2:c.1570T>A	XP_016884536.1:p.Cys524Ser
XM_017029052.2:c.1084T>A	XP_016884541.1:p.Cys362Ser
XM_017029053.1:c.1069T>A	XP_016884542.1:p.Cys357Ser
XM_017029056.2:c.697T>A	XP_016884545.1:p.Cys233Ser
XM_017029061.2:c.697T>A	XP_016884550.1:p.Cys233Ser
XM_017029062.2:c.697T>A	XP_016884551.1:p.Cys233Ser
XM_017029063.2:c.697T>A	XP_016884552.1:p.Cys233Ser
XM_017029064.2:c.697T>A	XP_016884553.1:p.Cys233Ser
XM_024452298.1:c.865T>A	XP_024308066.1:p.Cys289Ser
XM_024452299.1:c.697T>A	XP_024308067.1:p.Cys233Ser
XM_024452300.1:c.697T>A	XP_024308068.1:p.Cys233Ser
XR_001755361.2:n.2200T>A
XR_001755364.1:n.2056T>A
XR_001755366.2:n.2729T>A
XR_002958721.1:n.2278T>A
XR_937947.2:n.2278T>A
NM_001349898.2:c.1492T>A	NP_001336827.1:p.Cys498Ser
NM_001349899.2:c.1492T>A	NP_001336828.1:p.Cys498Ser
NM_001349900.2:c.1546T>A	NP_001336829.1:p.Cys516Ser
NM_001349903.2:c.1492T>A	NP_001336832.1:p.Cys498Ser
NM_001349904.2:c.1492T>A	NP_001336833.1:p.Cys498Ser
NR_073136.2:n.1747T>A
NR_146311.2:n.2189T>A
NR_146313.2:n.2034T>A
NR_146315.2:n.2105T>A
NM_022081.6:c.1492T>A MANE Select	NP_071364.4:p.Cys498Ser
NR_146316.2:n.2080T>A

Linked Data

Genomic Alleles

Transcript Alleles