Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666782A>C , CM000669.2:g.117666782A>C	GRCh38
NC_000007.13:g.117306836A>C , CM000669.1:g.117306836A>C	GRCh37
NC_000007.12:g.117094072A>C	NCBI36
NG_016465.4:g.205999A>C , LRG_663:g.205999A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*452-126A>C	ENSP00000497673.2:n.*452-126A>C
ENST00000647978.2:c.*3957-126A>C	ENSP00000497658.1:n.*3957-126A>C
ENST00000649781.2:c.4060-126A>C	ENSP00000497203.1:n.4060-126A>C
ENST00000685018.2:c.*456-126A>C	ENSP00000510194.2:n.*456-126A>C
ENST00000687278.2:c.*896-820A>C	ENSP00000509593.2:n.*896-820A>C
ENST00000699585.1:c.*586A>C	ENSP00000514456.1:n.*586A>C
ENST00000699598.1:c.4243-133A>C	ENSP00000514467.1:n.4243-133A>C
ENST00000699599.1:c.*456-126A>C	ENSP00000514468.1:n.*456-126A>C
ENST00000699600.1:c.*904-820A>C	ENSP00000514469.1:n.*904-820A>C
ENST00000699601.1:c.*2618-126A>C	ENSP00000514470.1:n.*2618-126A>C
ENST00000699602.1:c.4237-126A>C	ENSP00000514471.1:n.4237-126A>C
ENST00000699604.1:c.*4067-126A>C	ENSP00000514472.1:n.*4067-126A>C
ENST00000699605.1:c.3817-126A>C	ENSP00000514473.1:n.3817-126A>C
ENST00000699606.1:n.3628A>C
ENST00000685018.1:c.1107-126A>C	ENSP00000510194.1:n.1107-126A>C
ENST00000687278.1:c.2030-820A>C	ENSP00000509593.1:n.2030-820A>C
ENST00000689011.1:c.959A>C
ENST00000003084.11:c.4243-126A>C MANE Select	ENSP00000003084.6:n.4243-126A>C
ENST00000647720.1:c.1693-126A>C
ENST00000649781.1:c.4060-126A>C	ENSP00000497203.1:n.4060-126A>C
ENST00000003084.10:c.4243-126A>C	ENSP00000003084.6:n.4243-126A>C
ENST00000426809.5:c.4153-126A>C	ENSP00000389119.1:n.4153-126A>C
ENST00000600166.1:c.368+1218A>C
NM_000492.3:c.4243-126A>C , LRG_663t1:c.4243-126A>C	NP_000483.3:n.4243-126A>C
XM_011515751.1:c.4333-126A>C	XP_011514053.1:n.4333-126A>C
XM_011515752.1:c.*117A>C	XP_011514054.1:n.*117A>C
XM_011515753.1:c.4000-126A>C	XP_011514055.1:n.4000-126A>C
XM_011515754.1:c.4000-126A>C	XP_011514056.1:n.4000-126A>C
NM_000492.4:c.4243-126A>C MANE Select	NP_000483.3:n.4243-126A>C