Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35104873T>C , CM000679.2:g.35104873T>C	GRCh38
NC_000017.10:g.33431892T>C , CM000679.1:g.33431892T>C	GRCh37
NC_000017.9:g.30456005T>C	NCBI36
NG_031858.1:g.19997A>G , LRG_516:g.19997A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586186.3:c.442-1329A>G	ENSP00000468273.3:n.442-1329A>G
ENST00000587405.6:c.220-1329A>G	ENSP00000466478.2:n.220-1329A>G
ENST00000590016.6:c.637-1329A>G	ENSP00000466399.1:n.637-1329A>G
ENST00000590631.2:n.533-1329A>G
ENST00000592577.6:c.220-1329A>G	ENSP00000466839.2:n.220-1329A>G
ENST00000345365.11:c.577-1329A>G MANE Select	ENSP00000338790.6:n.577-1329A>G
ENST00000335858.11:c.241-1329A>G	ENSP00000338408.6:n.241-1329A>G
ENST00000345365.10:c.577-1329A>G	ENSP00000338790.6:n.577-1329A>G
ENST00000394589.8:c.577-1329A>G	ENSP00000378090.4:n.577-1329A>G
ENST00000415064.6:n.966A>G
ENST00000460118.6:c.46-1329A>G	ENSP00000464356.2:n.46-1329A>G
ENST00000586044.5:c.*308-1329A>G	ENSP00000465584.1:n.*308-1329A>G
ENST00000586210.5:c.*171-1329A>G	ENSP00000465612.1:n.*171-1329A>G
ENST00000587405.5:c.220-1329A>G	ENSP00000466478.1:n.220-1329A>G
ENST00000587977.5:c.*317-1329A>G	ENSP00000466587.1:n.*317-1329A>G
ENST00000588372.5:c.*59+1255A>G	ENSP00000468764.1:n.*59+1255A>G
ENST00000588594.5:c.*173-1329A>G	ENSP00000465366.1:n.*173-1329A>G
ENST00000590016.5:c.637-1329A>G	ENSP00000466399.1:n.637-1329A>G
ENST00000590631.1:c.46-1329A>G	ENSP00000465033.1:n.46-1329A>G
ENST00000591723.5:c.46-1329A>G	ENSP00000467986.1:n.46-1329A>G
ENST00000592181.1:c.220-1329A>G	ENSP00000464799.1:n.220-1329A>G
ENST00000592577.5:c.583-1329A>G	ENSP00000466839.1:n.583-1329A>G
ENST00000593039.5:c.100-1329A>G	ENSP00000466834.1:n.100-1329A>G
NM_001142571.1:c.637-1329A>G	NP_001136043.1:n.637-1329A>G
NM_002878.3:c.577-1329A>G , LRG_516t1:c.577-1329A>G	NP_002869.3:n.577-1329A>G
NM_133629.2:c.241-1329A>G	NP_598332.1:n.241-1329A>G
NR_037711.1:n.714-1329A>G
NR_037712.1:n.579-1329A>G
NR_037714.1:n.329-1329A>G
NM_001142571.2:c.637-1329A>G	NP_001136043.1:n.637-1329A>G
NM_133629.3:c.241-1329A>G	NP_598332.1:n.241-1329A>G
NR_037711.2:n.603-1329A>G
NR_037712.2:n.468-1329A>G
NM_002878.4:c.577-1329A>G MANE Select	NP_002869.3:n.577-1329A>G