Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44424072A>G , CM000682.2:g.44424072A>G	GRCh38
NC_000020.10:g.43052712A>G , CM000682.1:g.43052712A>G	GRCh37
NC_000020.9:g.42486126A>G	NCBI36
NG_009818.1:g.73272A>G , LRG_483:g.73272A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316673.9:c.881A>G MANE Select	ENSP00000315180.4:p.Gln294Arg
ENST00000316099.10:c.947A>G	ENSP00000312987.3:p.Gln316Arg
ENST00000619550.5:c.921A>G
ENST00000316099.9:c.947A>G	ENSP00000312987.3:p.Gln316Arg
ENST00000316099.8:c.947A>G	ENSP00000312987.3:p.Gln316Arg
ENST00000316673.8:c.881A>G	ENSP00000315180.4:p.Gln294Arg
ENST00000372920.1:c.*714A>G	ENSP00000362011.1:n.*714A>G
ENST00000415691.2:c.947A>G	ENSP00000412111.1:p.Gln316Arg
ENST00000443598.6:c.947A>G	ENSP00000410911.2:p.Gln316Arg
ENST00000457232.5:c.881A>G	ENSP00000396216.1:p.Gln294Arg
ENST00000609795.5:c.881A>G	ENSP00000476609.1:p.Gln294Arg
ENST00000619550.4:c.872A>G	ENSP00000481331.1:p.Gln291Arg
NM_000457.4:c.947A>G , LRG_483t2:c.947A>G	NP_000448.3:p.Gln316Arg
NM_001030003.2:c.881A>G	NP_001025174.1:p.Gln294Arg
NM_001030004.2:c.881A>G	NP_001025175.1:p.Gln294Arg
NM_001258355.1:c.926A>G	NP_001245284.1:p.Gln309Arg
NM_001287182.1:c.872A>G	NP_001274111.1:p.Gln291Arg
NM_001287183.1:c.872A>G , LRG_483t3:c.872A>G	NP_001274112.1:p.Gln291Arg
NM_001287184.1:c.872A>G	NP_001274113.1:p.Gln291Arg
NM_175914.4:c.881A>G , LRG_483t1:c.881A>G	NP_787110.2:p.Gln294Arg
NM_178849.2:c.947A>G	NP_849180.1:p.Gln316Arg
NM_178850.2:c.947A>G	NP_849181.1:p.Gln316Arg
XM_005260407.2:c.1064A>G	XP_005260464.1:p.Gln355Arg
XM_011528797.1:c.995A>G	XP_011527099.1:p.Gln332Arg
XM_011528798.1:c.995A>G	XP_011527100.1:p.Gln332Arg
XM_005260407.4:c.1064A>G	XP_005260464.1:p.Gln355Arg
NM_001030003.3:c.881A>G	NP_001025174.1:p.Gln294Arg
NM_001030004.3:c.881A>G	NP_001025175.1:p.Gln294Arg
NM_001258355.2:c.926A>G	NP_001245284.1:p.Gln309Arg
NM_001287182.2:c.872A>G	NP_001274111.1:p.Gln291Arg
NM_001287184.2:c.872A>G	NP_001274113.1:p.Gln291Arg
NM_178849.3:c.947A>G	NP_849180.1:p.Gln316Arg
NM_178850.3:c.947A>G	NP_849181.1:p.Gln316Arg
NM_000457.5:c.947A>G	NP_000448.3:p.Gln316Arg
NM_000457.6:c.947A>G	NP_000448.3:p.Gln316Arg
NM_001287183.2:c.872A>G	NP_001274112.1:p.Gln291Arg
NM_175914.5:c.881A>G MANE Select	NP_787110.2:p.Gln294Arg