Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306336C= , CM000676.2:g.77306336C=	GRCh38
NC_000014.8:g.77772679C= , CM000676.1:g.77772679C=	GRCh37
NC_000014.7:g.76842432C=	NCBI36
NG_008897.1:g.19547G= , LRG_844:g.19547G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.168G=
ENST00000556394.2:c.249-1536G=	ENSP00000451967.2:n.249-1536G=
ENST00000556880.6:n.372G=
ENST00000682247.1:c.438+1G=	ENSP00000507213.1:n.438+1G=
ENST00000682382.1:c.386+1G=
ENST00000682395.1:n.167+1G=
ENST00000682459.1:n.102+66G=
ENST00000682467.1:c.438+1G=	ENSP00000508062.1:n.438+1G=
ENST00000682795.1:c.438+1G=	ENSP00000507574.1:n.438+1G=
ENST00000682895.1:n.154+1G=
ENST00000682955.1:n.102+66G=
ENST00000683188.1:c.233+1G=
ENST00000683380.1:n.102+66G=
ENST00000683828.1:c.307+1G=
ENST00000684102.1:n.185G=
ENST00000684259.1:n.289+1G=
ENST00000684479.1:n.105+1G=
ENST00000684549.1:n.168G=
ENST00000684600.1:c.252+1G=
ENST00000684670.1:n.105+1G=
ENST00000261534.9:c.438+1G= MANE Select	ENSP00000261534.4:n.438+1G=
ENST00000261534.8:c.438+1G=	ENSP00000261534.4:n.438+1G=
ENST00000452340.7:n.461+1G=
ENST00000553863.5:n.102+66G=
ENST00000554948.1:c.165+1G=	ENSP00000452060.1:n.165+1G=
ENST00000555675.5:n.154+1G=
ENST00000555788.5:n.273G=
ENST00000556326.5:c.*104+1G=	ENSP00000450630.1:n.*104+1G=
ENST00000556880.5:n.372G=
ENST00000557525.1:n.528+1G=
NM_013382.5:c.438+1G= , LRG_844t1:c.438+1G=	NP_037514.2:n.438+1G=
XM_011536675.1:c.438+1G=	XP_011534977.1:n.438+1G=
XM_011536676.1:c.105+1G=	XP_011534978.1:n.105+1G=
XM_011536677.1:c.438+1G=	XP_011534979.1:n.438+1G=
XM_011536678.1:c.438+1G=	XP_011534980.1:n.438+1G=
XM_011536680.1:c.438+1G=	XP_011534982.1:n.438+1G=
XR_943416.1:n.641+1G=
XM_011536675.2:c.438+1G=	XP_011534977.1:n.438+1G=
XM_011536676.2:c.105+1G=	XP_011534978.1:n.105+1G=
XM_011536677.3:c.438+1G=	XP_011534979.1:n.438+1G=
XR_001750279.1:n.638+1G=
XR_001750282.1:n.642+1G=
XR_943416.3:n.639+1G=
NM_013382.6:c.438+1G=	NP_037514.2:n.438+1G=
NM_013382.7:c.438+1G= MANE Select	NP_037514.2:n.438+1G=