Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60902509C>T , CM000667.2:g.60902509C>T	GRCh38
NC_000005.9:g.60198336C>T , CM000667.1:g.60198336C>T	GRCh37
NC_000005.8:g.60234093C>T	NCBI36
NG_009289.1:g.47570G>A , LRG_466:g.47570G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000082.4:c.551-1G>A MANE Select	NP_000073.1:n.551-1G>A
ENST00000676185.1:c.551-1G>A MANE Select	ENSP00000501614.1:n.551-1G>A
NM_000082.3:c.551-1G>A , LRG_466t1:c.551-1G>A	NP_000073.1:n.551-1G>A
NM_001007233.2:c.377-1G>A	NP_001007234.1:n.377-1G>A
NM_001007233.3:c.377-1G>A	NP_001007234.1:n.377-1G>A
NM_001290285.1:c.92-1G>A	NP_001277214.1:n.92-1G>A
NM_001290285.2:c.92-1G>A	NP_001277214.1:n.92-1G>A
ENST00000265038.10:c.551-1G>A	ENSP00000265038.6:n.551-1G>A
ENST00000265038.9:c.551-1G>A	ENSP00000265038.5:n.551-1G>A
ENST00000381118.7:c.*595-1G>A	ENSP00000370510.3:n.*595-1G>A
ENST00000439176.5:c.377-1G>A	ENSP00000408344.1:n.377-1G>A
ENST00000439176.6:c.562G>A	ENSP00000408344.2:p.Gly188Ser
ENST00000462279.5:n.396-1G>A
ENST00000484330.5:n.227-1G>A
ENST00000495985.5:n.328-1G>A
ENST00000643034.1:c.*443-1G>A	ENSP00000496080.1:n.*443-1G>A
ENST00000643708.1:c.*381-1G>A	ENSP00000494199.1:n.*381-1G>A
ENST00000647431.1:c.603-1G>A
ENST00000647431.2:c.652-1G>A	ENSP00000494726.2:n.652-1G>A
ENST00000647486.1:c.583-1G>A
ENST00000647486.2:c.632-1G>A	ENSP00000494466.2:n.632-1G>A
ENST00000675042.1:c.377-1G>A	ENSP00000502082.1:n.377-1G>A
ENST00000675042.2:c.377-1G>A	ENSP00000502082.2:n.377-1G>A
ENST00000675378.1:c.551-1G>A	ENSP00000502535.1:n.551-1G>A
ENST00000675452.1:n.800-1G>A
ENST00000675452.2:c.*516-1G>A	ENSP00000506954.1:n.*516-1G>A
ENST00000682217.1:c.551-1G>A	ENSP00000507570.1:n.551-1G>A
ENST00000682246.1:n.607-1G>A
ENST00000682375.1:c.*381-1G>A	ENSP00000507551.1:n.*381-1G>A
ENST00000683052.1:c.353-1G>A	ENSP00000507072.1:n.353-1G>A
ENST00000683199.1:n.573-1G>A
ENST00000683216.1:n.820-1G>A
ENST00000683460.1:c.*381-1G>A	ENSP00000507820.1:n.*381-1G>A
ENST00000684394.1:n.606-1G>A
ENST00000684453.1:n.601-1G>A
ENST00000684621.1:n.607-1G>A