Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523093T>A , CM000671.2:g.131523093T>A	GRCh38
NC_000009.11:g.134398480T>A , CM000671.1:g.134398480T>A	GRCh37
NC_000009.10:g.133388301T>A	NCBI36
NG_008896.1:g.25192T>A
NG_008896.2:g.25192T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.2003T>A	ENSP00000343034.7:p.Ile668Asn
ENST00000404875.7:n.2705T>A
ENST00000423007.6:c.2222T>A	ENSP00000404119.2:p.Ile741Asn
ENST00000677295.2:c.*2509T>A	ENSP00000504346.2:n.*2509T>A
ENST00000678264.2:c.*2348T>A	ENSP00000503157.2:n.*2348T>A
ENST00000682070.1:n.2475T>A
ENST00000682639.1:c.162T>A
ENST00000682813.1:n.2562T>A
ENST00000683231.1:c.162T>A
ENST00000683392.1:n.4757T>A
ENST00000683712.1:n.2570T>A
ENST00000683900.1:n.4065T>A
ENST00000684062.1:n.2831T>A
ENST00000684399.1:c.162T>A
ENST00000684579.1:n.4011T>A
ENST00000341012.12:c.2003T>A	ENSP00000343034.7:p.Ile668Asn
ENST00000372220.5:c.1034T>A	ENSP00000361294.5:p.Ile345Asn
ENST00000372228.9:c.2231T>A	ENSP00000361302.3:p.Ile744Asn
ENST00000402686.8:c.2165T>A MANE Select	ENSP00000385797.4:p.Ile722Asn
ENST00000676640.1:c.2165T>A	ENSP00000503281.1:p.Ile722Asn
ENST00000676803.1:c.1226T>A	ENSP00000503093.1:p.Ile409Asn
ENST00000676835.1:c.*1380T>A	ENSP00000502911.1:n.*1380T>A
ENST00000677029.1:c.1709T>A	ENSP00000502936.1:p.Ile570Asn
ENST00000677099.1:c.*1875T>A	ENSP00000504553.1:n.*1875T>A
ENST00000677216.1:c.1814T>A	ENSP00000503772.1:p.Ile605Asn
ENST00000677295.1:c.*1387T>A	ENSP00000504346.1:n.*1387T>A
ENST00000677444.1:c.2110T>A
ENST00000677586.1:n.1532T>A
ENST00000677626.1:c.1814T>A	ENSP00000503552.1:p.Ile605Asn
ENST00000677853.1:c.*1173T>A	ENSP00000503488.1:n.*1173T>A
ENST00000678264.1:c.*1542T>A	ENSP00000503157.1:n.*1542T>A
ENST00000678303.1:c.2075T>A	ENSP00000503696.1:p.Ile692Asn
ENST00000678366.1:c.*2414T>A	ENSP00000504353.1:n.*2414T>A
ENST00000678546.1:c.*2110T>A	ENSP00000503062.1:n.*2110T>A
ENST00000678548.1:c.*2304T>A	ENSP00000503934.1:n.*2304T>A
ENST00000678626.1:n.2001T>A
ENST00000678739.1:c.*2331T>A	ENSP00000503806.1:n.*2331T>A
ENST00000678833.1:c.*1917T>A	ENSP00000503893.1:n.*1917T>A
ENST00000679023.1:c.2003T>A	ENSP00000503718.1:p.Ile668Asn
ENST00000679076.1:c.1784T>A
ENST00000679111.1:c.*921T>A	ENSP00000504257.1:n.*921T>A
ENST00000679189.1:c.1814T>A	ENSP00000503356.1:p.Ile605Asn
ENST00000341012.11:c.2003T>A	ENSP00000343034.7:p.Ile668Asn
ENST00000372220.4:c.1028T>A	ENSP00000361294.4:p.Ile343Asn
ENST00000372228.7:c.2231T>A	ENSP00000361302.3:p.Ile744Asn
ENST00000402686.7:c.2165T>A	ENSP00000385797.3:p.Ile722Asn
ENST00000404875.6:c.1814T>A	ENSP00000384531.2:p.Ile605Asn
ENST00000423007.5:c.2165T>A	ENSP00000404119.1:p.Ile722Asn
ENST00000485278.5:n.2715T>A
NM_001077365.1:c.2165T>A	NP_001070833.1:p.Ile722Asn
NM_001077366.1:c.2003T>A	NP_001070834.1:p.Ile668Asn
NM_001136113.1:c.2165T>A	NP_001129585.1:p.Ile722Asn
NM_001136114.1:c.1814T>A	NP_001129586.1:p.Ile605Asn
NM_007171.3:c.2231T>A	NP_009102.3:p.Ile744Asn
XM_005272156.1:c.2231T>A	XP_005272213.1:p.Ile744Asn
XM_005272158.1:c.2069T>A	XP_005272215.1:p.Ile690Asn
XM_005272159.1:c.1880T>A	XP_005272216.1:p.Ile627Asn
XM_005272162.1:c.1034T>A	XP_005272219.1:p.Ile345Asn
XM_006716932.1:c.1880T>A	XP_006716995.1:p.Ile627Asn
XM_011518140.1:c.2084T>A	XP_011516442.1:p.Ile695Asn
XM_011518141.1:c.2018T>A	XP_011516443.1:p.Ile673Asn
XM_011518142.1:c.1922T>A	XP_011516444.1:p.Ile641Asn
XM_011518143.1:c.1916T>A	XP_011516445.1:p.Ile639Asn
XM_011518145.1:c.1775T>A	XP_011516447.1:p.Ile592Asn
XM_011518147.1:c.1103T>A	XP_011516449.1:p.Ile368Asn
XR_929703.1:n.2407T>A
NM_001353193.1:c.2231T>A	NP_001340122.1:p.Ile744Asn
NM_001353194.1:c.2003T>A	NP_001340123.1:p.Ile668Asn
NM_001353195.1:c.1814T>A	NP_001340124.1:p.Ile605Asn
NM_001353196.1:c.2075T>A	NP_001340125.1:p.Ile692Asn
NM_001353197.1:c.2069T>A	NP_001340126.1:p.Ile690Asn
NM_001353198.1:c.2069T>A	NP_001340127.1:p.Ile690Asn
NM_001353199.1:c.1880T>A	NP_001340128.1:p.Ile627Asn
NM_001353200.1:c.1709T>A	NP_001340129.1:p.Ile570Asn
NR_148391.1:n.2215T>A
NR_148392.1:n.2433T>A
NR_148393.1:n.2354T>A
NR_148394.1:n.2108T>A
NR_148395.1:n.2506T>A
NR_148396.1:n.2140T>A
NR_148397.1:n.2265T>A
NR_148398.1:n.2220T>A
NR_148399.1:n.2746T>A
NR_148400.1:n.2345T>A
XM_005272162.3:c.1034T>A	XP_005272219.1:p.Ile345Asn
XM_006716932.2:c.1880T>A	XP_006716995.1:p.Ile627Asn
XM_011518140.2:c.2084T>A	XP_011516442.1:p.Ile695Asn
XM_011518141.2:c.2018T>A	XP_011516443.1:p.Ile673Asn
XM_011518142.2:c.1922T>A	XP_011516444.1:p.Ile641Asn
XM_011518143.2:c.1916T>A	XP_011516445.1:p.Ile639Asn
XM_011518145.2:c.1775T>A	XP_011516447.1:p.Ile592Asn
XM_017014205.2:c.1034T>A	XP_016869694.1:p.Ile345Asn
XM_024447380.1:c.1034T>A	XP_024303148.1:p.Ile345Asn
XM_024447381.1:c.1340T>A	XP_024303149.1:p.Ile447Asn
XM_024447382.1:c.1034T>A	XP_024303150.1:p.Ile345Asn
XR_001746160.2:n.2335T>A
XR_001746162.2:n.2540T>A
XR_001746164.1:n.2257T>A
XR_001746166.2:n.2552T>A
NM_001077365.2:c.2165T>A MANE Select	NP_001070833.1:p.Ile722Asn
NM_001077366.2:c.2003T>A	NP_001070834.1:p.Ile668Asn
NM_001136113.2:c.2165T>A	NP_001129585.1:p.Ile722Asn
NM_001136114.2:c.1814T>A	NP_001129586.1:p.Ile605Asn
NM_001353193.2:c.2231T>A	NP_001340122.2:p.Ile744Asn
NM_001353194.2:c.2003T>A	NP_001340123.1:p.Ile668Asn
NM_001353195.2:c.1814T>A	NP_001340124.1:p.Ile605Asn
NM_001353196.2:c.2075T>A	NP_001340125.1:p.Ile692Asn
NM_001353197.2:c.2069T>A	NP_001340126.2:p.Ile690Asn
NM_001353198.2:c.2069T>A	NP_001340127.2:p.Ile690Asn
NM_001353199.2:c.1880T>A	NP_001340128.2:p.Ile627Asn
NM_001353200.2:c.1709T>A	NP_001340129.1:p.Ile570Asn
NM_001374689.1:c.2153T>A	NP_001361618.1:p.Ile718Asn
NM_001374690.1:c.1946T>A	NP_001361619.1:p.Ile649Asn
NM_001374691.1:c.1814T>A	NP_001361620.1:p.Ile605Asn
NM_001374692.1:c.1814T>A	NP_001361621.1:p.Ile605Asn
NM_001374693.1:c.1814T>A	NP_001361622.1:p.Ile605Asn
NM_001374695.1:c.1775T>A	NP_001361624.1:p.Ile592Asn
NM_007171.4:c.2231T>A	NP_009102.4:p.Ile744Asn
NR_148391.2:n.2199T>A
NR_148392.2:n.2417T>A
NR_148393.2:n.2338T>A
NR_148394.2:n.2092T>A
NR_148395.2:n.2490T>A
NR_148396.2:n.2124T>A
NR_148397.2:n.2249T>A
NR_148398.2:n.2204T>A
NR_148399.2:n.2730T>A
NR_148400.2:n.2329T>A

Linked Data

Genomic Alleles

Transcript Alleles