Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483882C>T , CM000678.2:g.70483882C>T	GRCh38
NC_000016.9:g.70517785C>T , CM000678.1:g.70517785C>T	GRCh37
NC_000016.8:g.69075286C>T	NCBI36
NG_027529.1:g.44673G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000534772.2:c.*1874G>A	ENSP00000461912.2:n.*1874G>A
ENST00000703106.1:c.1843G>A	ENSP00000515173.1:n.1843G>A
ENST00000703107.1:c.*1727G>A	ENSP00000515174.1:n.*1727G>A
ENST00000703108.1:c.*246G>A	ENSP00000515175.1:n.*246G>A
ENST00000703109.1:c.1831G>A	ENSP00000515176.1:p.Val611Met
ENST00000703110.1:c.*1300G>A	ENSP00000515177.1:n.*1300G>A
ENST00000703111.1:n.1805G>A
ENST00000703112.1:n.2571G>A
ENST00000703113.1:c.*1211G>A	ENSP00000515178.1:n.*1211G>A
ENST00000703114.1:c.*447G>A	ENSP00000515179.1:n.*447G>A
ENST00000703115.1:c.911G>A	ENSP00000515180.1:n.911G>A
ENST00000323786.10:c.1798G>A MANE Select	ENSP00000315775.5:p.Val600Met
ENST00000564415.6:c.*1578G>A	ENSP00000456653.2:n.*1578G>A
ENST00000674443.1:c.1723G>A	ENSP00000501405.1:p.Val575Met
ENST00000323786.9:c.1798G>A	ENSP00000315775.5:p.Val600Met
ENST00000393612.8:c.1735G>A	ENSP00000377236.5:p.Val579Met
ENST00000482252.5:c.1945G>A	ENSP00000432802.1:n.1945G>A
ENST00000526700.5:n.974G>A
ENST00000530314.5:n.2477G>A
ENST00000564315.1:n.258G>A
ENST00000564415.5:c.*1578G>A	ENSP00000456653.1:n.*1578G>A
NM_001195139.1:c.1735G>A	NP_001182068.1:p.Val579Met
NM_015386.2:c.1798G>A	NP_056201.2:p.Val600Met
XM_011522981.1:c.1372G>A	XP_011521283.1:p.Val458Met
XR_933266.1:n.1744G>A
XR_933267.1:n.1744G>A
XM_011522981.3:c.1372G>A	XP_011521283.1:p.Val458Met
XM_024450224.1:c.817G>A	XP_024305992.1:p.Val273Met
XR_001751889.1:n.1681G>A
XR_933266.2:n.1744G>A
NM_015386.3:c.1798G>A MANE Select	NP_056201.2:p.Val600Met
NM_001195139.2:c.1723G>A	NP_001182068.2:p.Val575Met
NM_001365426.1:c.1372G>A	NP_001352355.1:p.Val458Met
NR_158212.1:n.1757G>A

Linked Data

Genomic Alleles

Transcript Alleles