Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17410515C>T , CM000673.2:g.17410515C>T	GRCh38
NC_000011.9:g.17432062C>T , CM000673.1:g.17432062C>T	GRCh37
NC_000011.8:g.17388638C>T	NCBI36
NG_008867.1:g.71388G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.2363+1G>A
ENST00000529967.6:n.953+1G>A
ENST00000642611.2:n.2763+1G>A
ENST00000682051.1:n.2710+1G>A
ENST00000682110.1:n.2763+1G>A
ENST00000682140.1:c.2691+1G>A	ENSP00000507829.1:n.2691+1G>A
ENST00000682185.1:n.3999+1G>A
ENST00000682204.1:c.*832+1G>A	ENSP00000507094.1:n.*832+1G>A
ENST00000682215.1:n.2760+1G>A
ENST00000682288.1:c.*1125+1G>A	ENSP00000507506.1:n.*1125+1G>A
ENST00000682442.1:n.2884+1G>A
ENST00000682528.1:n.2760+1G>A
ENST00000682673.1:n.2707+1G>A
ENST00000682805.1:n.2760+1G>A
ENST00000682965.1:c.2691+1G>A	ENSP00000508229.1:n.2691+1G>A
ENST00000683093.1:n.2862+1G>A
ENST00000683136.1:c.2691+1G>A	ENSP00000507768.1:n.2691+1G>A
ENST00000683153.1:n.2919+1G>A
ENST00000683365.1:n.2865+1G>A
ENST00000683377.1:n.2763+1G>A
ENST00000683456.1:c.2694+1G>A	ENSP00000508318.1:n.2694+1G>A
ENST00000683522.1:n.2763+1G>A
ENST00000683562.1:c.*863+1G>A	ENSP00000508265.1:n.*863+1G>A
ENST00000683693.1:n.2760+1G>A
ENST00000683725.1:c.2694+1G>A	ENSP00000507496.1:n.2694+1G>A
ENST00000684010.1:n.2678+1G>A
ENST00000684157.1:n.2763+1G>A
ENST00000684253.1:n.2666+1G>A
ENST00000684288.1:c.*866+1G>A	ENSP00000507143.1:n.*866+1G>A
ENST00000684313.1:n.2195+1G>A
ENST00000684332.1:n.2836+1G>A
ENST00000684371.1:n.2869+1G>A
ENST00000684404.1:n.2760+1G>A
ENST00000684442.1:n.2763+1G>A
ENST00000684555.1:c.*906+1G>A	ENSP00000507705.1:n.*906+1G>A
ENST00000684571.1:c.2535+1G>A	ENSP00000506935.1:n.2535+1G>A
ENST00000684593.1:c.*2399+1G>A	ENSP00000507005.1:n.*2399+1G>A
ENST00000684711.1:c.*1090+1G>A	ENSP00000506841.1:n.*1090+1G>A
ENST00000302539.9:c.2697+1G>A	ENSP00000303960.4:n.2697+1G>A
ENST00000389817.8:c.2694+1G>A MANE Select	ENSP00000374467.4:n.2694+1G>A
ENST00000642271.1:c.2691+1G>A	ENSP00000493749.1:n.2691+1G>A
ENST00000642579.1:c.778+1G>A
ENST00000642611.1:n.2648+1G>A
ENST00000642902.1:c.2529+1G>A
ENST00000643260.1:c.2694+1G>A	ENSP00000494450.1:n.2694+1G>A
ENST00000643562.1:c.*670+1G>A	ENSP00000496124.1:n.*670+1G>A
ENST00000643925.1:c.738+1G>A
ENST00000644447.1:c.1050+1G>A	ENSP00000496282.1:n.1050+1G>A
ENST00000644472.1:c.*1055+1G>A	ENSP00000495378.1:n.*1055+1G>A
ENST00000644484.1:c.*903+1G>A	ENSP00000493558.1:n.*903+1G>A
ENST00000644542.1:c.*2399+1G>A	ENSP00000495532.1:n.*2399+1G>A
ENST00000644675.1:c.*866+1G>A	ENSP00000494567.1:n.*866+1G>A
ENST00000644757.1:c.*999+1G>A	ENSP00000495085.1:n.*999+1G>A
ENST00000644772.1:c.2760+1G>A	ENSP00000494321.1:n.2760+1G>A
ENST00000645076.1:c.1946+1G>A
ENST00000645744.1:c.*1058+1G>A	ENSP00000494564.1:n.*1058+1G>A
ENST00000645760.1:c.2969+1G>A
ENST00000645884.1:c.2694+1G>A	ENSP00000495516.1:n.2694+1G>A
ENST00000646003.1:c.*750+1G>A	ENSP00000495259.1:n.*750+1G>A
ENST00000646207.1:c.*1058+1G>A	ENSP00000495025.1:n.*1058+1G>A
ENST00000646276.1:c.*967+1G>A	ENSP00000496070.1:n.*967+1G>A
ENST00000646592.1:c.1920+1G>A
ENST00000646902.1:c.2691+1G>A	ENSP00000494101.1:n.2691+1G>A
ENST00000646993.1:c.*1090+1G>A	ENSP00000493720.1:n.*1090+1G>A
ENST00000647013.1:c.2700+1G>A	ENSP00000496741.1:n.2700+1G>A
ENST00000647015.1:c.2445+1G>A	ENSP00000495389.1:n.2445+1G>A
ENST00000647086.1:c.*2424+1G>A	ENSP00000493677.1:n.*2424+1G>A
ENST00000647158.1:c.*835+1G>A	ENSP00000495744.1:n.*835+1G>A
ENST00000302539.8:c.2697+1G>A	ENSP00000303960.4:n.2697+1G>A
ENST00000389817.7:c.2694+1G>A	ENSP00000374467.3:n.2694+1G>A
ENST00000526921.5:n.378+1G>A
ENST00000527905.5:c.2664+1G>A	ENSP00000431653.1:n.2664+1G>A
ENST00000529967.5:n.363+1G>A
ENST00000530147.5:n.278G>A
NM_000352.4:c.2694+1G>A	NP_000343.2:n.2694+1G>A
NM_001287174.1:c.2697+1G>A	NP_001274103.1:n.2697+1G>A
XM_011520331.1:c.2694+1G>A	XP_011518633.1:n.2694+1G>A
XM_011520332.1:c.2697+1G>A	XP_011518634.1:n.2697+1G>A
XM_011520333.1:c.1194+1G>A	XP_011518635.1:n.1194+1G>A
XM_011520334.1:c.2697+1G>A	XP_011518636.1:n.2697+1G>A
XR_930890.1:n.2760+1G>A
XR_930891.1:n.2760+1G>A
XR_930892.1:n.2760+1G>A
XR_930893.1:n.2757+1G>A
NM_001351295.1:c.2760+1G>A	NP_001338224.1:n.2760+1G>A
NM_001351296.1:c.2694+1G>A	NP_001338225.1:n.2694+1G>A
NM_001351297.1:c.2691+1G>A	NP_001338226.1:n.2691+1G>A
NR_147094.1:n.2763+1G>A
XM_017018197.2:c.2763+1G>A	XP_016873686.1:n.2763+1G>A
XM_017018199.1:c.2760+1G>A	XP_016873688.1:n.2760+1G>A
XM_017018201.2:c.2763+1G>A	XP_016873690.1:n.2763+1G>A
XM_017018202.1:c.1260+1G>A	XP_016873691.1:n.1260+1G>A
XM_017018204.1:c.651+1G>A	XP_016873693.1:n.651+1G>A
XM_024448668.1:c.1062+1G>A	XP_024304436.1:n.1062+1G>A
XR_001747945.2:n.2835+1G>A
XR_001747946.2:n.2766+1G>A
XR_002957189.1:n.2835+1G>A
NM_000352.6:c.2694+1G>A MANE Select	NP_000343.2:n.2694+1G>A
NM_001287174.2:c.2697+1G>A	NP_001274103.1:n.2697+1G>A
NM_001351295.2:c.2760+1G>A	NP_001338224.1:n.2760+1G>A
NM_001351296.2:c.2694+1G>A	NP_001338225.1:n.2694+1G>A
NM_001351297.2:c.2691+1G>A	NP_001338226.1:n.2691+1G>A
NR_147094.2:n.2763+1G>A
NM_001287174.3:c.2697+1G>A	NP_001274103.1:n.2697+1G>A

Linked Data

Genomic Alleles

Transcript Alleles