Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161170382C>A , CM000663.2:g.161170382C>A	GRCh38
NC_000001.10:g.161140172C>A , CM000663.1:g.161140172C>A	GRCh37
NC_000001.9:g.159406796C>A	NCBI36
NG_011480.1:g.12143G>T
NG_012877.1:g.8992C>A
NG_012877.2:g.8992C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367999.9:c.988-27C>A MANE Select	ENSP00000356978.4:n.988-27C>A
ENST00000650741.1:c.783-27C>A	ENSP00000499106.1:n.783-27C>A
ENST00000651150.1:c.*745-27C>A	ENSP00000498615.1:n.*745-27C>A
ENST00000652100.1:c.49-27C>A
ENST00000652103.1:c.692-27C>A
ENST00000652182.1:c.988-238C>A	ENSP00000498884.1:n.988-238C>A
ENST00000652297.1:c.744-27C>A	ENSP00000498871.1:n.744-27C>A
ENST00000652473.1:c.*530-27C>A	ENSP00000498477.1:n.*530-27C>A
ENST00000352210.9:c.988-27C>A	ENSP00000343943.5:n.988-27C>A
ENST00000367999.8:c.988-27C>A	ENSP00000356978.4:n.988-27C>A
ENST00000462866.5:n.96-238C>A
ENST00000466452.1:n.122C>A
ENST00000495483.5:n.1046-27C>A
ENST00000497522.5:n.474-238C>A
ENST00000535223.5:c.88-238C>A	ENSP00000443769.1:n.88-238C>A
ENST00000537523.5:c.246-27C>A
ENST00000537829.1:c.156-27C>A
ENST00000539753.5:c.284-27C>A	ENSP00000439613.1:n.284-27C>A
ENST00000541818.1:n.742-27C>A
ENST00000544598.5:c.223-238C>A	ENSP00000444216.1:n.223-238C>A
NM_000309.3:c.988-27C>A	NP_000300.1:n.988-27C>A
NM_001122764.1:c.988-27C>A	NP_001116236.1:n.988-27C>A
XM_005245291.3:c.988-27C>A	XP_005245348.2:n.988-27C>A
XM_005245295.3:c.580-27C>A	XP_005245352.2:n.580-27C>A
XM_006711402.2:c.1003-27C>A	XP_006711465.2:n.1003-27C>A
XM_006711403.2:c.988-27C>A	XP_006711466.2:n.988-27C>A
XM_006711404.2:c.1003-27C>A	XP_006711467.1:n.1003-27C>A
XM_006711406.2:c.580-27C>A	XP_006711469.2:n.580-27C>A
XM_011509663.1:c.1117-27C>A	XP_011507965.1:n.1117-27C>A
XM_011509664.1:c.1102-27C>A	XP_011507966.1:n.1102-27C>A
XM_011509665.1:c.1117-27C>A	XP_011507967.1:n.1117-27C>A
XM_011509666.1:c.1117-238C>A	XP_011507968.1:n.1117-238C>A
XM_011509667.1:c.1003-27C>A	XP_011507969.1:n.1003-27C>A
XM_011509668.1:c.1003-27C>A	XP_011507970.1:n.1003-27C>A
XM_011509669.1:c.1003-27C>A	XP_011507971.1:n.1003-27C>A
XM_011509670.1:c.1003-27C>A	XP_011507972.1:n.1003-27C>A
XM_011509671.1:c.1102-27C>A	XP_011507973.1:n.1102-27C>A
XM_011509672.1:c.1003-27C>A	XP_011507974.1:n.1003-27C>A
XM_011509673.1:c.853-27C>A	XP_011507975.1:n.853-27C>A
XM_011509674.1:c.937-238C>A	XP_011507976.1:n.937-238C>A
XM_011509675.1:c.889-27C>A	XP_011507977.1:n.889-27C>A
XM_011509676.1:c.580-27C>A	XP_011507978.1:n.580-27C>A
XM_011509677.1:c.580-27C>A	XP_011507979.1:n.580-27C>A
XM_011509678.1:c.580-27C>A	XP_011507980.1:n.580-27C>A
XM_011509679.1:c.580-27C>A	XP_011507981.1:n.580-27C>A
XM_011509680.1:c.544-27C>A	XP_011507982.1:n.544-27C>A
XM_011509681.1:c.502-27C>A	XP_011507983.1:n.502-27C>A
XM_011509682.1:c.286-27C>A	XP_011507984.1:n.286-27C>A
XR_921850.1:n.1007-27C>A
NM_000309.4:c.988-27C>A	NP_000300.1:n.988-27C>A
NM_001122764.3:c.988-27C>A MANE Select	NP_001116236.1:n.988-27C>A
NM_001350128.1:c.889-27C>A	NP_001337057.1:n.889-27C>A
NM_001350129.1:c.580-27C>A	NP_001337058.1:n.580-27C>A
NM_001350130.1:c.502-27C>A	NP_001337059.1:n.502-27C>A
NM_001350131.1:c.502-27C>A	NP_001337060.1:n.502-27C>A
XM_005245291.4:c.988-27C>A	XP_005245348.2:n.988-27C>A
XM_006711404.4:c.1117-27C>A	XP_006711467.2:n.1117-27C>A
XM_011509663.2:c.1117-27C>A	XP_011507965.1:n.1117-27C>A
XM_011509665.2:c.1117-27C>A	XP_011507967.1:n.1117-27C>A
XM_011509666.2:c.1117-238C>A	XP_011507968.1:n.1117-238C>A
XM_011509667.2:c.1003-27C>A	XP_011507969.1:n.1003-27C>A
XM_011509668.2:c.1003-27C>A	XP_011507970.1:n.1003-27C>A
XM_011509670.2:c.1003-27C>A	XP_011507972.1:n.1003-27C>A
XM_011509672.3:c.1003-27C>A	XP_011507974.1:n.1003-27C>A
XM_011509673.2:c.853-27C>A	XP_011507975.1:n.853-27C>A
XM_011509674.2:c.937-238C>A	XP_011507976.1:n.937-238C>A
XM_017001559.1:c.1117-238C>A	XP_016857048.1:n.1117-238C>A
XM_017001560.2:c.988-238C>A	XP_016857049.1:n.988-238C>A
XM_017001562.1:c.580-27C>A	XP_016857051.1:n.580-27C>A
XM_017001563.2:c.502-27C>A	XP_016857052.1:n.502-27C>A
XM_017001564.1:c.502-27C>A	XP_016857053.1:n.502-27C>A
XM_017001566.2:c.580-27C>A	XP_016857055.1:n.580-27C>A
XM_017001567.1:c.580-27C>A	XP_016857056.1:n.580-27C>A
XM_017001570.1:c.286-27C>A	XP_016857059.1:n.286-27C>A
XM_017001571.1:c.337-238C>A	XP_016857060.1:n.337-238C>A
XM_024447863.1:c.988-27C>A	XP_024303631.1:n.988-27C>A
XM_024447864.1:c.853-27C>A	XP_024303632.1:n.853-27C>A
XM_024447865.1:c.580-27C>A	XP_024303633.1:n.580-27C>A
XM_024447866.1:c.580-27C>A	XP_024303634.1:n.580-27C>A
XM_024447867.1:c.580-27C>A	XP_024303635.1:n.580-27C>A
XM_024447874.1:c.580-27C>A	XP_024303642.1:n.580-27C>A
XM_024447877.1:c.502-27C>A	XP_024303645.1:n.502-27C>A
XR_921850.2:n.1221-27C>A
NM_000309.5:c.988-27C>A	NP_000300.1:n.988-27C>A
NM_001350128.2:c.889-27C>A	NP_001337057.1:n.889-27C>A
NM_001350129.2:c.580-27C>A	NP_001337058.1:n.580-27C>A
NM_001350130.2:c.502-27C>A	NP_001337059.1:n.502-27C>A
NM_001350131.2:c.502-27C>A	NP_001337060.1:n.502-27C>A
NM_001365398.1:c.988-27C>A	NP_001352327.1:n.988-27C>A
NM_001365399.1:c.988-238C>A	NP_001352328.1:n.988-238C>A
NM_001365400.1:c.580-27C>A	NP_001352329.1:n.580-27C>A
NM_001365401.1:c.502-27C>A	NP_001352330.1:n.502-27C>A