Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45858008G>A , CM000680.2:g.45858008G>A	GRCh38
NC_000018.9:g.43437973G>A , CM000680.1:g.43437973G>A	GRCh37
NC_000018.8:g.41691971G>A	NCBI36
NG_042838.1:g.114332C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586655.2:n.5548C>T
ENST00000587884.2:c.7413C>T	ENSP00000466990.2:n.7413C>T
ENST00000587973.2:n.3152C>T
ENST00000590884.6:c.6948C>T	ENSP00000466403.2:n.6948C>T
ENST00000592272.6:c.7180C>T	ENSP00000467464.2:n.7180C>T
ENST00000696481.1:n.3919C>T
ENST00000696482.1:c.7027C>T	ENSP00000512656.1:n.7027C>T
ENST00000696483.1:c.7287C>T	ENSP00000512657.1:p.Leu2429=
ENST00000696484.1:c.7287C>T	ENSP00000512658.1:p.Leu2429=
ENST00000696485.1:c.*1879C>T	ENSP00000512659.1:n.*1879C>T
ENST00000696489.1:c.7284C>T	ENSP00000512660.1:p.Leu2428=
ENST00000696490.1:c.7287C>T	ENSP00000512661.1:p.Leu2429=
ENST00000282041.11:c.7287C>T MANE Select	ENSP00000282041.4:p.Leu2429=
ENST00000282041.9:c.7287C>T	ENSP00000282041.4:p.Leu2429=
ENST00000585906.5:n.4066C>T
ENST00000587262.1:n.147C>T
ENST00000587884.1:c.*3027C>T	ENSP00000466990.1:n.*3027C>T
ENST00000590854.5:c.1064C>T
ENST00000590884.5:c.*1599C>T	ENSP00000466403.1:n.*1599C>T
ENST00000592272.5:c.*1234C>T	ENSP00000467464.1:n.*1234C>T
NM_020964.2:c.7287C>T	NP_066015.2:p.Leu2429=
XM_011526120.1:c.7314C>T	XP_011524422.1:p.Leu2438=
XM_011526121.1:c.7311C>T	XP_011524423.1:p.Leu2437=
XM_011526122.1:c.7287C>T	XP_011524424.1:p.Leu2429=
XM_011526123.1:c.7314C>T	XP_011524425.1:p.Leu2438=
XM_011526124.1:c.7314C>T	XP_011524426.1:p.Leu2438=
XM_011526125.1:c.7173C>T	XP_011524427.1:p.Leu2391=
XM_011526126.1:c.6249C>T	XP_011524428.1:p.Leu2083=
XR_935244.1:n.7280C>T
NM_020964.3:c.7287C>T MANE Select	NP_066015.2:p.Leu2429=
XM_017025889.1:c.7284C>T	XP_016881378.1:p.Leu2428=
XM_017025890.2:c.7287C>T	XP_016881379.1:p.Leu2429=
XM_017025891.1:c.7146C>T	XP_016881380.1:p.Leu2382=
XM_017025892.1:c.6222C>T	XP_016881381.1:p.Leu2074=
XM_017025893.1:c.3912C>T	XP_016881382.1:p.Leu1304=
XR_001753256.1:n.7262C>T
XR_001753257.1:n.7310C>T