Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70484050T>A , CM000678.2:g.70484050T>A	GRCh38
NC_000016.9:g.70517953T>A , CM000678.1:g.70517953T>A	GRCh37
NC_000016.8:g.69075454T>A	NCBI36
NG_027529.1:g.44505A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1787-81A>T	ENSP00000461912.2:n.*1787-81A>T
ENST00000703106.1:c.1675A>T	ENSP00000515173.1:p.Arg559Trp
ENST00000703107.1:c.*1640-81A>T	ENSP00000515174.1:n.*1640-81A>T
ENST00000703108.1:c.*159-81A>T	ENSP00000515175.1:n.*159-81A>T
ENST00000703109.1:c.1744-81A>T	ENSP00000515176.1:n.1744-81A>T
ENST00000703110.1:c.*1213-81A>T	ENSP00000515177.1:n.*1213-81A>T
ENST00000703111.1:n.1718-81A>T
ENST00000703112.1:n.2484-81A>T
ENST00000703113.1:c.*1124-81A>T	ENSP00000515178.1:n.*1124-81A>T
ENST00000703114.1:c.*360-81A>T	ENSP00000515179.1:n.*360-81A>T
ENST00000703115.1:c.824-81A>T	ENSP00000515180.1:n.824-81A>T
ENST00000323786.10:c.1711-81A>T MANE Select	ENSP00000315775.5:n.1711-81A>T
ENST00000564415.6:c.*1491-81A>T	ENSP00000456653.2:n.*1491-81A>T
ENST00000674443.1:c.1636-81A>T	ENSP00000501405.1:n.1636-81A>T
ENST00000323786.9:c.1711-81A>T	ENSP00000315775.5:n.1711-81A>T
ENST00000393612.8:c.1648-81A>T	ENSP00000377236.5:n.1648-81A>T
ENST00000482252.5:c.1858-81A>T	ENSP00000432802.1:n.1858-81A>T
ENST00000526700.5:n.887-81A>T
ENST00000530314.5:n.2390-81A>T
ENST00000564315.1:n.171-81A>T
ENST00000564415.5:c.*1491-81A>T	ENSP00000456653.1:n.*1491-81A>T
NM_001195139.1:c.1648-81A>T	NP_001182068.1:n.1648-81A>T
NM_015386.2:c.1711-81A>T	NP_056201.2:n.1711-81A>T
XM_011522981.1:c.1285-81A>T	XP_011521283.1:n.1285-81A>T
XR_933266.1:n.1657-81A>T
XR_933267.1:n.1657-81A>T
XM_011522981.3:c.1285-81A>T	XP_011521283.1:n.1285-81A>T
XM_024450224.1:c.730-81A>T	XP_024305992.1:n.730-81A>T
XR_001751889.1:n.1594-81A>T
XR_933266.2:n.1657-81A>T
NM_015386.3:c.1711-81A>T MANE Select	NP_056201.2:n.1711-81A>T
NM_001195139.2:c.1636-81A>T	NP_001182068.2:n.1636-81A>T
NM_001365426.1:c.1285-81A>T	NP_001352355.1:n.1285-81A>T
NR_158212.1:n.1670-81A>T