Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076628G= , CM000676.2:g.65076628G=	GRCh38
NC_000014.8:g.65543346G= , CM000676.1:g.65543346G=	GRCh37
NC_000014.7:g.64613099G=	NCBI36
NG_029830.1:g.30882C= , LRG_530:g.30882C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.112C=	ENSP00000452206.2:p.Leu38=
ENST00000556979.6:c.*784C=	ENSP00000452378.1:n.*784C=
ENST00000358664.9:c.331C= MANE Select	ENSP00000351490.4:p.Leu111=
ENST00000651648.1:c.145-6259C=	ENSP00000498863.1:n.145-6259C=
ENST00000284165.10:c.*1175C=	ENSP00000284165.6:n.*1175C=
ENST00000341653.6:c.171+17080C=	ENSP00000342482.2:n.171+17080C=
ENST00000358402.8:c.304C=	ENSP00000351175.4:p.Leu102=
ENST00000358664.8:c.331C=	ENSP00000351490.4:p.Leu111=
ENST00000394606.6:c.*104C=	ENSP00000378104.2:n.*104C=
ENST00000553928.5:c.*120C=	ENSP00000451907.1:n.*120C=
ENST00000555419.5:c.223C=	ENSP00000452405.1:p.Leu75=
ENST00000555932.5:c.72C=	ENSP00000450763.1:p.Asn24=
ENST00000556892.5:c.112C=	ENSP00000452206.1:p.Leu38=
ENST00000557277.5:c.142C=	ENSP00000450955.1:p.Leu48=
ENST00000618858.4:c.*120C=	ENSP00000480127.1:n.*120C=
NM_001271069.1:c.144+17080C=	NP_001257998.1:n.144+17080C=
NM_002382.4:c.331C=	NP_002373.3:p.Leu111=
NM_145112.2:c.304C=	NP_660087.1:p.Leu102=
NM_145113.2:c.*120C=	NP_660088.1:n.*120C=
NM_197957.3:c.171+17080C=	NP_932061.1:n.171+17080C=
NR_073137.1:n.455C=
XR_429315.2:n.618C=
XR_943450.1:n.699C=
XR_943451.1:n.715C=
XR_943452.1:n.661C=
NM_001320415.1:c.142C=	NP_001307344.1:p.Leu48=
XM_017021312.2:c.142C=	XP_016876801.1:p.Leu48=
XM_017021313.1:c.142C=	XP_016876802.1:p.Leu48=
XR_001750326.2:n.676C=
XR_001750327.2:n.595C=
XR_002957553.1:n.1109C=
XR_943450.3:n.699C=
XR_943451.3:n.715C=
XR_943452.3:n.660C=
NM_001320415.2:c.142C=	NP_001307344.1:p.Leu48=
NM_002382.5:c.331C= MANE Select	NP_002373.3:p.Leu111=
NM_145112.3:c.304C=	NP_660087.1:p.Leu102=
NM_145113.3:c.*120C=	NP_660088.1:n.*120C=
NM_001271069.2:c.144+17080C=	NP_001257998.1:n.144+17080C=
NM_197957.4:c.171+17080C=	NP_932061.1:n.171+17080C=