Allele Registry

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Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44149763C>T , CM000669.2:g.44149763C>T	GRCh38
NC_000007.13:g.44189362C>T , CM000669.1:g.44189362C>T	GRCh37
NC_000007.12:g.44155887C>T	NCBI36
NG_008847.1:g.44661G>A
NG_008847.2:g.53408G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*674G>A	ENSP00000379142.4:n.*674G>A
ENST00000616242.5:c.676G>A	ENSP00000482149.2:p.Val226Met
ENST00000682635.1:n.1162G>A
ENST00000345378.7:c.679G>A	ENSP00000223366.2:p.Val227Met
ENST00000403799.8:c.676G>A MANE Select	ENSP00000384247.3:p.Val226Met
ENST00000671824.1:c.676G>A	ENSP00000500264.1:p.Val226Met
ENST00000673284.1:c.676G>A	ENSP00000499852.1:p.Val226Met
ENST00000345378.6:c.679G>A	ENSP00000223366.2:p.Val227Met
ENST00000395796.7:c.673G>A	ENSP00000379142.3:p.Val225Met
ENST00000403799.7:c.676G>A	ENSP00000384247.3:p.Val226Met
ENST00000437084.1:c.625G>A	ENSP00000402840.1:p.Val209Met
ENST00000616242.4:c.673G>A	ENSP00000482149.1:p.Val225Met
NM_000162.3:c.676G>A	NP_000153.1:p.Val226Met
NM_033507.1:c.679G>A	NP_277042.1:p.Val227Met
NM_033508.1:c.673G>A	NP_277043.1:p.Val225Met
XR_927223.1:n.278C>T
NM_000162.4:c.676G>A	NP_000153.1:p.Val226Met
NM_001354800.1:c.676G>A	NP_001341729.1:p.Val226Met
NM_033507.2:c.679G>A	NP_277042.1:p.Val227Met
NM_033508.2:c.673G>A	NP_277043.1:p.Val225Met
XR_927223.2:n.278C>T
NM_000162.5:c.676G>A MANE Select	NP_000153.1:p.Val226Met
NM_033507.3:c.679G>A	NP_277042.1:p.Val227Met
NM_033508.3:c.673G>A	NP_277043.1:p.Val225Met

Linked Data

Genomic Alleles

Transcript Alleles