Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435953C>A , CM000682.2:g.32435953C>A	GRCh38
NC_000020.10:g.31023756C>A , CM000682.1:g.31023756C>A	GRCh37
NC_000020.9:g.30487417C>A	NCBI36
NG_027868.1:g.82610C>A , LRG_630:g.82610C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3241C>A MANE Select	ENSP00000364839.4:p.Leu1081Met
ENST00000646985.1:c.3058C>A	ENSP00000495053.1:p.Leu1020Met
ENST00000647223.1:n.5594C>A
ENST00000651418.1:c.1869+1372C>A	ENSP00000499150.1:n.1869+1372C>A
ENST00000306058.9:c.3226C>A	ENSP00000305119.5:p.Leu1076Met
ENST00000375687.8:c.3241C>A	ENSP00000364839.4:p.Leu1081Met
ENST00000613218.4:c.3241C>A	ENSP00000480487.1:p.Leu1081Met
ENST00000620121.4:c.3241C>A	ENSP00000481978.1:p.Leu1081Met
NM_015338.5:c.3241C>A , LRG_630t1:c.3241C>A	NP_056153.2:p.Leu1081Met
XM_006723727.2:c.3238C>A	XP_006723790.1:p.Leu1080Met
XM_006723728.2:c.3211C>A	XP_006723791.1:p.Leu1071Met
XM_006723730.2:c.3157C>A	XP_006723793.1:p.Leu1053Met
XM_006723732.2:c.3058C>A	XP_006723795.1:p.Leu1020Met
XM_006723733.1:c.2557C>A	XP_006723796.1:p.Leu853Met
XM_011528647.1:c.3505C>A	XP_011526949.1:p.Leu1169Met
XM_011528648.1:c.3502C>A	XP_011526950.1:p.Leu1168Met
XM_011528649.1:c.3421C>A	XP_011526951.1:p.Leu1141Met
XM_011528650.1:c.3352C>A	XP_011526952.1:p.Leu1118Met
XM_011528651.1:c.3220C>A	XP_011526953.1:p.Leu1074Met
XM_011528652.1:c.3157C>A	XP_011526954.1:p.Leu1053Met
NM_001363734.1:c.3058C>A	NP_001350663.1:p.Leu1020Met
XM_006723727.3:c.3238C>A	XP_006723790.1:p.Leu1080Met
XM_006723728.3:c.3211C>A	XP_006723791.1:p.Leu1071Met
XM_006723730.4:c.3157C>A	XP_006723793.1:p.Leu1053Met
XM_011528648.3:c.3502C>A	XP_011526950.1:p.Leu1168Met
XM_011528652.2:c.3157C>A	XP_011526954.1:p.Leu1053Met
XM_017027704.1:c.3157C>A	XP_016883193.1:p.Leu1053Met
XM_017027705.1:c.3157C>A	XP_016883194.1:p.Leu1053Met
XM_017027706.1:c.3088C>A	XP_016883195.1:p.Leu1030Met
NM_015338.6:c.3241C>A MANE Select	NP_056153.2:p.Leu1081Met

Linked Data

Genomic Alleles

Transcript Alleles