Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518855C>A , CM000671.2:g.131518855C>A	GRCh38
NC_000009.11:g.134394242C>A , CM000671.1:g.134394242C>A	GRCh37
NC_000009.10:g.133384063C>A	NCBI36
NG_008896.1:g.20954C>A
NG_008896.2:g.20954C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1222C>A	ENSP00000343034.7:p.Pro408Thr
ENST00000404875.7:n.1924C>A
ENST00000423007.6:c.1441C>A	ENSP00000404119.2:p.Pro481Thr
ENST00000677295.2:c.*1728C>A	ENSP00000504346.2:n.*1728C>A
ENST00000678264.2:c.*1567C>A	ENSP00000503157.2:n.*1567C>A
ENST00000682070.1:n.1849C>A
ENST00000682539.1:c.322C>A
ENST00000682813.1:n.1788C>A
ENST00000683392.1:n.4131C>A
ENST00000683712.1:n.1789C>A
ENST00000683900.1:n.3284C>A
ENST00000684062.1:n.2050C>A
ENST00000684579.1:n.3230C>A
ENST00000684679.1:n.611C>A
ENST00000341012.12:c.1222C>A	ENSP00000343034.7:p.Pro408Thr
ENST00000372220.5:c.253C>A	ENSP00000361294.5:p.Pro85Thr
ENST00000372228.9:c.1450C>A	ENSP00000361302.3:p.Pro484Thr
ENST00000402686.8:c.1384C>A MANE Select	ENSP00000385797.4:p.Pro462Thr
ENST00000676640.1:c.1384C>A	ENSP00000503281.1:p.Pro462Thr
ENST00000676803.1:c.559C>A	ENSP00000503093.1:p.Pro187Thr
ENST00000676835.1:c.*599C>A	ENSP00000502911.1:n.*599C>A
ENST00000677029.1:c.928C>A	ENSP00000502936.1:p.Pro310Thr
ENST00000677099.1:c.*1094C>A	ENSP00000504553.1:n.*1094C>A
ENST00000677216.1:c.1033C>A	ENSP00000503772.1:p.Pro345Thr
ENST00000677221.1:n.409C>A
ENST00000677295.1:c.*761C>A	ENSP00000504346.1:n.*761C>A
ENST00000677444.1:c.1329C>A
ENST00000677586.1:n.865C>A
ENST00000677626.1:c.1033C>A	ENSP00000503552.1:p.Pro345Thr
ENST00000677677.1:n.1344C>A
ENST00000677853.1:c.*392C>A	ENSP00000503488.1:n.*392C>A
ENST00000678202.1:n.543C>A
ENST00000678264.1:c.*761C>A	ENSP00000503157.1:n.*761C>A
ENST00000678303.1:c.1294C>A	ENSP00000503696.1:p.Pro432Thr
ENST00000678366.1:c.*1633C>A	ENSP00000504353.1:n.*1633C>A
ENST00000678546.1:c.*1329C>A	ENSP00000503062.1:n.*1329C>A
ENST00000678548.1:c.*1456C>A	ENSP00000503934.1:n.*1456C>A
ENST00000678626.1:n.1220C>A
ENST00000678733.1:c.465C>A
ENST00000678739.1:c.*1710C>A	ENSP00000503806.1:n.*1710C>A
ENST00000678833.1:c.*831C>A	ENSP00000503893.1:n.*831C>A
ENST00000679023.1:c.1222C>A	ENSP00000503718.1:p.Pro408Thr
ENST00000679076.1:c.1003C>A
ENST00000679111.1:c.*140C>A	ENSP00000504257.1:n.*140C>A
ENST00000679189.1:c.1033C>A	ENSP00000503356.1:p.Pro345Thr
ENST00000341012.11:c.1222C>A	ENSP00000343034.7:p.Pro408Thr
ENST00000372220.4:c.247C>A	ENSP00000361294.4:p.Pro83Thr
ENST00000372228.7:c.1450C>A	ENSP00000361302.3:p.Pro484Thr
ENST00000402686.7:c.1384C>A	ENSP00000385797.3:p.Pro462Thr
ENST00000404875.6:c.1033C>A	ENSP00000384531.2:p.Pro345Thr
ENST00000423007.5:c.1384C>A	ENSP00000404119.1:p.Pro462Thr
ENST00000467848.1:n.88C>A
ENST00000485278.5:n.1939C>A
NM_001077365.1:c.1384C>A	NP_001070833.1:p.Pro462Thr
NM_001077366.1:c.1222C>A	NP_001070834.1:p.Pro408Thr
NM_001136113.1:c.1384C>A	NP_001129585.1:p.Pro462Thr
NM_001136114.1:c.1033C>A	NP_001129586.1:p.Pro345Thr
NM_007171.3:c.1450C>A	NP_009102.3:p.Pro484Thr
XM_005272156.1:c.1450C>A	XP_005272213.1:p.Pro484Thr
XM_005272158.1:c.1288C>A	XP_005272215.1:p.Pro430Thr
XM_005272159.1:c.1099C>A	XP_005272216.1:p.Pro367Thr
XM_005272162.1:c.253C>A	XP_005272219.1:p.Pro85Thr
XM_006716932.1:c.1099C>A	XP_006716995.1:p.Pro367Thr
XM_011518140.1:c.1303C>A	XP_011516442.1:p.Pro435Thr
XM_011518141.1:c.1237C>A	XP_011516443.1:p.Pro413Thr
XM_011518142.1:c.1141C>A	XP_011516444.1:p.Pro381Thr
XM_011518143.1:c.1135C>A	XP_011516445.1:p.Pro379Thr
XM_011518144.1:c.*140C>A	XP_011516446.1:n.*140C>A
XM_011518145.1:c.994C>A	XP_011516447.1:p.Pro332Thr
XM_011518146.1:c.*140C>A	XP_011516448.1:n.*140C>A
XM_011518147.1:c.322C>A	XP_011516449.1:p.Pro108Thr
XR_929703.1:n.1626C>A
NM_001353193.1:c.1450C>A	NP_001340122.1:p.Pro484Thr
NM_001353194.1:c.1222C>A	NP_001340123.1:p.Pro408Thr
NM_001353195.1:c.1033C>A	NP_001340124.1:p.Pro345Thr
NM_001353196.1:c.1294C>A	NP_001340125.1:p.Pro432Thr
NM_001353197.1:c.1288C>A	NP_001340126.1:p.Pro430Thr
NM_001353198.1:c.1288C>A	NP_001340127.1:p.Pro430Thr
NM_001353199.1:c.1099C>A	NP_001340128.1:p.Pro367Thr
NM_001353200.1:c.928C>A	NP_001340129.1:p.Pro310Thr
NR_148391.1:n.1434C>A
NR_148392.1:n.1652C>A
NR_148393.1:n.1573C>A
NR_148394.1:n.1327C>A
NR_148395.1:n.1725C>A
NR_148396.1:n.1359C>A
NR_148397.1:n.1484C>A
NR_148398.1:n.1439C>A
NR_148399.1:n.1965C>A
NR_148400.1:n.1564C>A
XM_005272162.3:c.253C>A	XP_005272219.1:p.Pro85Thr
XM_006716932.2:c.1099C>A	XP_006716995.1:p.Pro367Thr
XM_011518140.2:c.1303C>A	XP_011516442.1:p.Pro435Thr
XM_011518141.2:c.1237C>A	XP_011516443.1:p.Pro413Thr
XM_011518142.2:c.1141C>A	XP_011516444.1:p.Pro381Thr
XM_011518143.2:c.1135C>A	XP_011516445.1:p.Pro379Thr
XM_011518145.2:c.994C>A	XP_011516447.1:p.Pro332Thr
XM_017014205.2:c.253C>A	XP_016869694.1:p.Pro85Thr
XM_024447380.1:c.253C>A	XP_024303148.1:p.Pro85Thr
XM_024447381.1:c.559C>A	XP_024303149.1:p.Pro187Thr
XM_024447382.1:c.253C>A	XP_024303150.1:p.Pro85Thr
XR_001746160.2:n.1554C>A
XR_001746162.2:n.1759C>A
XR_001746164.1:n.1476C>A
XR_001746166.2:n.1771C>A
NM_001077365.2:c.1384C>A MANE Select	NP_001070833.1:p.Pro462Thr
NM_001077366.2:c.1222C>A	NP_001070834.1:p.Pro408Thr
NM_001136113.2:c.1384C>A	NP_001129585.1:p.Pro462Thr
NM_001136114.2:c.1033C>A	NP_001129586.1:p.Pro345Thr
NM_001353193.2:c.1450C>A	NP_001340122.2:p.Pro484Thr
NM_001353194.2:c.1222C>A	NP_001340123.1:p.Pro408Thr
NM_001353195.2:c.1033C>A	NP_001340124.1:p.Pro345Thr
NM_001353196.2:c.1294C>A	NP_001340125.1:p.Pro432Thr
NM_001353197.2:c.1288C>A	NP_001340126.2:p.Pro430Thr
NM_001353198.2:c.1288C>A	NP_001340127.2:p.Pro430Thr
NM_001353199.2:c.1099C>A	NP_001340128.2:p.Pro367Thr
NM_001353200.2:c.928C>A	NP_001340129.1:p.Pro310Thr
NM_001374689.1:c.1372C>A	NP_001361618.1:p.Pro458Thr
NM_001374690.1:c.1365+318C>A	NP_001361619.1:n.1365+318C>A
NM_001374691.1:c.1033C>A	NP_001361620.1:p.Pro345Thr
NM_001374692.1:c.1033C>A	NP_001361621.1:p.Pro345Thr
NM_001374693.1:c.1033C>A	NP_001361622.1:p.Pro345Thr
NM_001374695.1:c.994C>A	NP_001361624.1:p.Pro332Thr
NM_007171.4:c.1450C>A	NP_009102.4:p.Pro484Thr
NR_148391.2:n.1418C>A
NR_148392.2:n.1636C>A
NR_148393.2:n.1557C>A
NR_148394.2:n.1311C>A
NR_148395.2:n.1709C>A
NR_148396.2:n.1343C>A
NR_148397.2:n.1468C>A
NR_148398.2:n.1423C>A
NR_148399.2:n.1949C>A
NR_148400.2:n.1548C>A

Linked Data

Genomic Alleles

Transcript Alleles