Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17427155C>T , CM000673.2:g.17427155C>T	GRCh38
NC_000011.9:g.17448702C>T , CM000673.1:g.17448702C>T	GRCh37
NC_000011.8:g.17405278C>T	NCBI36
NG_008867.1:g.54748G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.1786-1G>A
ENST00000529967.6:n.376-1G>A
ENST00000642611.2:n.2183-1G>A
ENST00000682051.1:n.2130-1G>A
ENST00000682110.1:n.2183-1G>A
ENST00000682140.1:c.2114-1G>A	ENSP00000507829.1:n.2114-1G>A
ENST00000682185.1:n.3422-1G>A
ENST00000682204.1:c.*255-1G>A	ENSP00000507094.1:n.*255-1G>A
ENST00000682215.1:n.2183-1G>A
ENST00000682288.1:c.*545-1G>A	ENSP00000507506.1:n.*545-1G>A
ENST00000682442.1:n.2304-1G>A
ENST00000682528.1:n.2183-1G>A
ENST00000682673.1:n.2130-1G>A
ENST00000682805.1:n.2183-1G>A
ENST00000682965.1:c.2114-1G>A	ENSP00000508229.1:n.2114-1G>A
ENST00000683093.1:n.2285-1G>A
ENST00000683136.1:c.2114-1G>A	ENSP00000507768.1:n.2114-1G>A
ENST00000683153.1:n.2342-1G>A
ENST00000683253.1:n.3199-1G>A
ENST00000683365.1:n.2285-1G>A
ENST00000683377.1:n.2183-1G>A
ENST00000683456.1:c.2114-1G>A	ENSP00000508318.1:n.2114-1G>A
ENST00000683522.1:n.2183-1G>A
ENST00000683562.1:c.*286-1G>A	ENSP00000508265.1:n.*286-1G>A
ENST00000683693.1:n.2183-1G>A
ENST00000683725.1:c.2117-1G>A	ENSP00000507496.1:n.2117-1G>A
ENST00000684010.1:n.2183-1G>A
ENST00000684157.1:n.2183-1G>A
ENST00000684253.1:n.2089-1G>A
ENST00000684288.1:c.*286-1G>A	ENSP00000507143.1:n.*286-1G>A
ENST00000684313.1:n.1724-10193G>A
ENST00000684332.1:n.2256-1G>A
ENST00000684371.1:n.2289-1G>A
ENST00000684404.1:n.2183-1G>A
ENST00000684442.1:n.2183-1G>A
ENST00000684555.1:c.*326-1G>A	ENSP00000507705.1:n.*326-1G>A
ENST00000684571.1:c.1958-1G>A	ENSP00000506935.1:n.1958-1G>A
ENST00000684593.1:c.*1822-1G>A	ENSP00000507005.1:n.*1822-1G>A
ENST00000684711.1:c.*513-1G>A	ENSP00000506841.1:n.*513-1G>A
ENST00000302539.9:c.2117-1G>A	ENSP00000303960.4:n.2117-1G>A
ENST00000389817.8:c.2117-1G>A MANE Select	ENSP00000374467.4:n.2117-1G>A
ENST00000642271.1:c.2114-1G>A	ENSP00000493749.1:n.2114-1G>A
ENST00000642579.1:c.198-1G>A
ENST00000642611.1:n.2068-1G>A
ENST00000642902.1:c.1952-1G>A
ENST00000643260.1:c.2114-1G>A	ENSP00000494450.1:n.2114-1G>A
ENST00000643562.1:c.*93-1G>A	ENSP00000496124.1:n.*93-1G>A
ENST00000643925.1:c.54-1G>A
ENST00000644447.1:c.470-1G>A	ENSP00000496282.1:n.470-1G>A
ENST00000644472.1:c.*478-1G>A	ENSP00000495378.1:n.*478-1G>A
ENST00000644484.1:c.*326-1G>A	ENSP00000493558.1:n.*326-1G>A
ENST00000644542.1:c.*1819-1G>A	ENSP00000495532.1:n.*1819-1G>A
ENST00000644675.1:c.*286-1G>A	ENSP00000494567.1:n.*286-1G>A
ENST00000644757.1:c.*419-1G>A	ENSP00000495085.1:n.*419-1G>A
ENST00000644772.1:c.2183-1G>A	ENSP00000494321.1:n.2183-1G>A
ENST00000645076.1:c.1369-1G>A
ENST00000645744.1:c.*478-1G>A	ENSP00000494564.1:n.*478-1G>A
ENST00000645760.1:c.2392-1G>A
ENST00000645884.1:c.2114-1G>A	ENSP00000495516.1:n.2114-1G>A
ENST00000646003.1:c.*255-1G>A	ENSP00000495259.1:n.*255-1G>A
ENST00000646207.1:c.*478-1G>A	ENSP00000495025.1:n.*478-1G>A
ENST00000646276.1:c.*387-1G>A	ENSP00000496070.1:n.*387-1G>A
ENST00000646592.1:c.1340-1G>A
ENST00000646902.1:c.2114-1G>A	ENSP00000494101.1:n.2114-1G>A
ENST00000646993.1:c.*513-1G>A	ENSP00000493720.1:n.*513-1G>A
ENST00000647013.1:c.2120-1G>A	ENSP00000496741.1:n.2120-1G>A
ENST00000647015.1:c.1865-1G>A	ENSP00000495389.1:n.1865-1G>A
ENST00000647086.1:c.*1844-1G>A	ENSP00000493677.1:n.*1844-1G>A
ENST00000647158.1:c.*255-1G>A	ENSP00000495744.1:n.*255-1G>A
ENST00000302539.8:c.2117-1G>A	ENSP00000303960.4:n.2117-1G>A
ENST00000389817.7:c.2117-1G>A	ENSP00000374467.3:n.2117-1G>A
ENST00000527905.5:c.2087-1G>A	ENSP00000431653.1:n.2087-1G>A
ENST00000531911.1:n.228-1G>A
NM_000352.4:c.2117-1G>A	NP_000343.2:n.2117-1G>A
NM_001287174.1:c.2117-1G>A	NP_001274103.1:n.2117-1G>A
XM_011520331.1:c.2114-1G>A	XP_011518633.1:n.2114-1G>A
XM_011520332.1:c.2117-1G>A	XP_011518634.1:n.2117-1G>A
XM_011520333.1:c.614-1G>A	XP_011518635.1:n.614-1G>A
XM_011520334.1:c.2117-1G>A	XP_011518636.1:n.2117-1G>A
XR_930890.1:n.2180-1G>A
XR_930891.1:n.2180-1G>A
XR_930892.1:n.2180-1G>A
XR_930893.1:n.2180-1G>A
NM_001351295.1:c.2183-1G>A	NP_001338224.1:n.2183-1G>A
NM_001351296.1:c.2114-1G>A	NP_001338225.1:n.2114-1G>A
NM_001351297.1:c.2114-1G>A	NP_001338226.1:n.2114-1G>A
NR_147094.1:n.2183-1G>A
XM_017018197.2:c.2183-1G>A	XP_016873686.1:n.2183-1G>A
XM_017018199.1:c.2180-1G>A	XP_016873688.1:n.2180-1G>A
XM_017018201.2:c.2183-1G>A	XP_016873690.1:n.2183-1G>A
XM_017018202.1:c.680-1G>A	XP_016873691.1:n.680-1G>A
XM_017018204.1:c.74-1G>A	XP_016873693.1:n.74-1G>A
XM_024448668.1:c.482-1G>A	XP_024304436.1:n.482-1G>A
XR_001747945.2:n.2255-1G>A
XR_001747946.2:n.2189-1G>A
XR_002957189.1:n.2255-1G>A
NM_000352.6:c.2117-1G>A MANE Select	NP_000343.2:n.2117-1G>A
NM_001287174.2:c.2117-1G>A	NP_001274103.1:n.2117-1G>A
NM_001351295.2:c.2183-1G>A	NP_001338224.1:n.2183-1G>A
NM_001351296.2:c.2114-1G>A	NP_001338225.1:n.2114-1G>A
NM_001351297.2:c.2114-1G>A	NP_001338226.1:n.2114-1G>A
NR_147094.2:n.2183-1G>A
NM_001287174.3:c.2117-1G>A	NP_001274103.1:n.2117-1G>A

Linked Data

Genomic Alleles

Transcript Alleles