Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44413755G= , CM000682.2:g.44413755G=	GRCh38
NC_000020.10:g.43042395G= , CM000682.1:g.43042395G=	GRCh37
NC_000020.9:g.42475809G=	NCBI36
NG_009818.1:g.62955G= , LRG_483:g.62955G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316673.9:c.381G= MANE Select	ENSP00000315180.4:p.Leu127=
ENST00000316099.10:c.447G=	ENSP00000312987.3:p.Leu149=
ENST00000619550.5:c.421G=
ENST00000683148.1:n.423G=
ENST00000683657.1:n.1571G=
ENST00000316099.9:c.447G=	ENSP00000312987.3:p.Leu149=
ENST00000316099.8:c.447G=	ENSP00000312987.3:p.Leu149=
ENST00000316673.8:c.381G=	ENSP00000315180.4:p.Leu127=
ENST00000372920.1:c.*214G=	ENSP00000362011.1:n.*214G=
ENST00000415691.2:c.447G=	ENSP00000412111.1:p.Leu149=
ENST00000443598.6:c.447G=	ENSP00000410911.2:p.Leu149=
ENST00000457232.5:c.381G=	ENSP00000396216.1:p.Leu127=
ENST00000609795.5:c.381G=	ENSP00000476609.1:p.Leu127=
ENST00000619550.4:c.372G=	ENSP00000481331.1:p.Leu124=
NM_000457.4:c.447G= , LRG_483t2:c.447G=	NP_000448.3:p.Leu149=
NM_001030003.2:c.381G=	NP_001025174.1:p.Leu127=
NM_001030004.2:c.381G=	NP_001025175.1:p.Leu127=
NM_001258355.1:c.426G=	NP_001245284.1:p.Leu142=
NM_001287182.1:c.372G=	NP_001274111.1:p.Leu124=
NM_001287183.1:c.372G= , LRG_483t3:c.372G=	NP_001274112.1:p.Leu124=
NM_001287184.1:c.372G=	NP_001274113.1:p.Leu124=
NM_175914.4:c.381G= , LRG_483t1:c.381G=	NP_787110.2:p.Leu127=
NM_178849.2:c.447G=	NP_849180.1:p.Leu149=
NM_178850.2:c.447G=	NP_849181.1:p.Leu149=
XM_005260407.2:c.564G=	XP_005260464.1:p.Leu188=
XM_011528797.1:c.495G=	XP_011527099.1:p.Leu165=
XM_011528798.1:c.495G=	XP_011527100.1:p.Leu165=
XM_005260407.4:c.564G=	XP_005260464.1:p.Leu188=
NM_001030003.3:c.381G=	NP_001025174.1:p.Leu127=
NM_001030004.3:c.381G=	NP_001025175.1:p.Leu127=
NM_001258355.2:c.426G=	NP_001245284.1:p.Leu142=
NM_001287182.2:c.372G=	NP_001274111.1:p.Leu124=
NM_001287184.2:c.372G=	NP_001274113.1:p.Leu124=
NM_178849.3:c.447G=	NP_849180.1:p.Leu149=
NM_178850.3:c.447G=	NP_849181.1:p.Leu149=
NM_000457.5:c.447G=	NP_000448.3:p.Leu149=
NM_000457.6:c.447G=	NP_000448.3:p.Leu149=
NM_001287183.2:c.372G=	NP_001274112.1:p.Leu124=
NM_175914.5:c.381G= MANE Select	NP_787110.2:p.Leu127=