Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44624273C>G , CM000682.2:g.44624273C>G	GRCh38
NC_000020.10:g.43252914C>G , CM000682.1:g.43252914C>G	GRCh37
NC_000020.9:g.42686328C>G	NCBI36
NG_007385.1:g.32463G>C , LRG_16:g.32463G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.626G>C
ENST00000536076.2:c.382G>C	ENSP00000512234.1:p.Ala128Pro
ENST00000536532.6:c.535G>C	ENSP00000440946.1:p.Ala179Pro
ENST00000537820.2:c.535G>C	ENSP00000441818.1:p.Ala179Pro
ENST00000539235.6:c.219-1195G>C	ENSP00000446464.1:n.219-1195G>C
ENST00000695889.1:c.219-1343G>C	ENSP00000512240.1:n.219-1343G>C
ENST00000695890.1:n.2338G>C
ENST00000695891.1:c.219-1343G>C	ENSP00000512241.1:n.219-1343G>C
ENST00000695927.1:c.613G>C	ENSP00000512270.1:p.Ala205Pro
ENST00000695949.1:c.532G>C	ENSP00000512281.1:p.Ala178Pro
ENST00000695957.1:c.*26G>C	ENSP00000512286.1:n.*26G>C
ENST00000695991.1:c.217-1343G>C	ENSP00000512314.1:n.217-1343G>C
ENST00000695992.1:c.535G>C	ENSP00000512315.1:p.Ala179Pro
ENST00000695993.1:c.535G>C	ENSP00000512316.1:p.Ala179Pro
ENST00000695994.1:c.535G>C	ENSP00000512317.1:p.Ala179Pro
ENST00000695995.1:c.217-1195G>C	ENSP00000512318.1:n.217-1195G>C
ENST00000695996.1:n.606G>C
ENST00000695997.1:n.490G>C
ENST00000696003.1:n.627G>C
ENST00000696004.1:n.627G>C
ENST00000696005.1:c.57G>C
ENST00000696006.1:c.535G>C	ENSP00000512325.1:p.Ala179Pro
ENST00000696007.1:c.386G>C	ENSP00000512326.1:n.386G>C
ENST00000696008.1:n.1690G>C
ENST00000696009.1:n.1885G>C
ENST00000696017.1:c.532G>C	ENSP00000512333.1:p.Ala178Pro
ENST00000696034.1:c.535G>C	ENSP00000512343.1:p.Ala179Pro
ENST00000696035.1:n.645G>C
ENST00000696036.1:n.1225G>C
ENST00000696037.1:n.2212G>C
ENST00000696038.1:c.*281G>C	ENSP00000512344.1:n.*281G>C
ENST00000696039.1:n.823G>C
ENST00000696058.1:c.535G>C	ENSP00000512361.1:p.Ala179Pro
ENST00000696059.1:c.*480G>C	ENSP00000512362.1:n.*480G>C
ENST00000696060.1:c.535G>C	ENSP00000512363.1:p.Ala179Pro
ENST00000696061.1:c.532G>C	ENSP00000512364.1:p.Ala178Pro
ENST00000696062.1:c.598G>C	ENSP00000512365.1:p.Ala200Pro
ENST00000696063.1:c.610G>C	ENSP00000512366.1:p.Ala204Pro
ENST00000696064.1:c.382G>C	ENSP00000512367.1:p.Ala128Pro
ENST00000696065.1:c.66-1343G>C	ENSP00000512368.1:n.66-1343G>C
ENST00000696074.1:n.151G>C
ENST00000696075.1:c.*505G>C	ENSP00000512374.1:n.*505G>C
ENST00000696076.1:c.535G>C	ENSP00000512375.1:p.Ala179Pro
ENST00000696077.1:c.532G>C	ENSP00000512376.1:p.Ala178Pro
ENST00000696078.1:c.535G>C	ENSP00000512377.1:p.Ala179Pro
ENST00000696079.1:c.535G>C	ENSP00000512378.1:p.Ala179Pro
ENST00000696080.1:c.535G>C	ENSP00000512379.1:p.Ala179Pro
ENST00000696081.1:n.654G>C
ENST00000696082.1:c.613G>C	ENSP00000512380.1:p.Ala205Pro
ENST00000696083.1:n.1416G>C
ENST00000696084.1:n.636G>C
ENST00000696104.1:c.363-1343G>C	ENSP00000512399.1:n.363-1343G>C
ENST00000696105.1:c.*76G>C	ENSP00000512400.1:n.*76G>C
ENST00000372874.9:c.535G>C MANE Select	ENSP00000361965.4:p.Ala179Pro
ENST00000372874.8:c.535G>C	ENSP00000361965.4:p.Ala179Pro
ENST00000464097.5:n.209G>C
ENST00000492931.5:n.619G>C
ENST00000536532.5:c.535G>C	ENSP00000440946.1:p.Ala179Pro
ENST00000537820.1:c.535G>C	ENSP00000441818.1:p.Ala179Pro
ENST00000539235.5:c.219-1195G>C	ENSP00000446464.1:n.219-1195G>C
NM_000022.2:c.535G>C , LRG_16t1:c.535G>C	NP_000013.2:p.Ala179Pro
XM_005260236.2:c.535G>C	XP_005260293.1:p.Ala179Pro
XM_011528478.1:c.130G>C	XP_011526780.1:p.Ala44Pro
XM_011528479.1:c.130G>C	XP_011526781.1:p.Ala44Pro
XR_244129.1:n.589G>C
NM_000022.3:c.535G>C	NP_000013.2:p.Ala179Pro
NM_001322050.1:c.130G>C	NP_001308979.1:p.Ala44Pro
NM_001322051.1:c.535G>C	NP_001308980.1:p.Ala179Pro
NR_136160.1:n.686G>C
NM_000022.4:c.535G>C MANE Select	NP_000013.2:p.Ala179Pro
NM_001322050.2:c.130G>C	NP_001308979.1:p.Ala44Pro
NM_001322051.2:c.535G>C	NP_001308980.1:p.Ala179Pro
NR_136160.2:n.627G>C

Linked Data

Genomic Alleles

Transcript Alleles