Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652916G>A , CM000669.2:g.117652916G>A	GRCh38
NC_000007.13:g.117292970G>A , CM000669.1:g.117292970G>A	GRCh37
NC_000007.12:g.117080206G>A	NCBI36
NG_016465.4:g.192133G>A , LRG_663:g.192133G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*157G>A	ENSP00000497673.2:n.*157G>A
ENST00000647978.2:c.*3662G>A	ENSP00000497658.1:n.*3662G>A
ENST00000649781.2:c.3765G>A	ENSP00000497203.1:p.Trp1255Ter
ENST00000685018.2:c.*161G>A	ENSP00000510194.2:n.*161G>A
ENST00000687278.2:c.*601G>A	ENSP00000509593.2:n.*601G>A
ENST00000699585.1:c.*157G>A	ENSP00000514456.1:n.*157G>A
ENST00000699598.1:c.3948G>A	ENSP00000514467.1:p.Trp1316Ter
ENST00000699599.1:c.*161G>A	ENSP00000514468.1:n.*161G>A
ENST00000699600.1:c.*609G>A	ENSP00000514469.1:n.*609G>A
ENST00000699601.1:c.*2323G>A	ENSP00000514470.1:n.*2323G>A
ENST00000699602.1:c.3942G>A	ENSP00000514471.1:p.Trp1314Ter
ENST00000699604.1:c.*3772G>A	ENSP00000514472.1:n.*3772G>A
ENST00000699605.1:c.3522G>A	ENSP00000514473.1:p.Trp1174Ter
ENST00000699606.1:n.2116G>A
ENST00000685018.1:c.812G>A	ENSP00000510194.1:n.812G>A
ENST00000687278.1:c.1735G>A	ENSP00000509593.1:n.1735G>A
ENST00000689011.1:c.530G>A
ENST00000003084.11:c.3948G>A MANE Select	ENSP00000003084.6:p.Trp1316Ter
ENST00000647720.1:c.1398G>A
ENST00000649781.1:c.3765G>A	ENSP00000497203.1:p.Trp1255Ter
ENST00000003084.10:c.3948G>A	ENSP00000003084.6:p.Trp1316Ter
ENST00000426809.5:c.3858G>A	ENSP00000389119.1:p.Trp1286Ter
ENST00000600166.1:c.74G>A
NM_000492.3:c.3948G>A , LRG_663t1:c.3948G>A	NP_000483.3:p.Trp1316Ter
XM_011515751.1:c.4038G>A	XP_011514053.1:p.Trp1346Ter
XM_011515752.1:c.4038G>A	XP_011514054.1:p.Trp1346Ter
XM_011515753.1:c.3705G>A	XP_011514055.1:p.Trp1235Ter
XM_011515754.1:c.3705G>A	XP_011514056.1:p.Trp1235Ter
NM_000492.4:c.3948G>A MANE Select	NP_000483.3:p.Trp1316Ter

Linked Data

Genomic Alleles

Transcript Alleles