Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076613G= , CM000676.2:g.65076613G=	GRCh38
NC_000014.8:g.65543331G= , CM000676.1:g.65543331G=	GRCh37
NC_000014.7:g.64613084G=	NCBI36
NG_029830.1:g.30897C= , LRG_530:g.30897C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.127C=	ENSP00000452206.2:p.Pro43=
ENST00000556979.6:c.*799C=	ENSP00000452378.1:n.*799C=
ENST00000358664.9:c.346C= MANE Select	ENSP00000351490.4:p.Pro116=
ENST00000651648.1:c.145-6244C=	ENSP00000498863.1:n.145-6244C=
ENST00000284165.10:c.*1190C=	ENSP00000284165.6:n.*1190C=
ENST00000341653.6:c.171+17095C=	ENSP00000342482.2:n.171+17095C=
ENST00000358402.8:c.319C=	ENSP00000351175.4:p.Pro107=
ENST00000358664.8:c.346C=	ENSP00000351490.4:p.Pro116=
ENST00000394606.6:c.*119C=	ENSP00000378104.2:n.*119C=
ENST00000553928.5:c.*135C=	ENSP00000451907.1:n.*135C=
ENST00000555419.5:c.238C=	ENSP00000452405.1:p.Pro80=
ENST00000555932.5:c.87C=	ENSP00000450763.1:p.Thr29=
ENST00000556892.5:c.127C=	ENSP00000452206.1:p.Pro43=
ENST00000557277.5:c.157C=	ENSP00000450955.1:p.Pro53=
ENST00000618858.4:c.*135C=	ENSP00000480127.1:n.*135C=
NM_001271069.1:c.144+17095C=	NP_001257998.1:n.144+17095C=
NM_002382.4:c.346C=	NP_002373.3:p.Pro116=
NM_145112.2:c.319C=	NP_660087.1:p.Pro107=
NM_145113.2:c.*135C=	NP_660088.1:n.*135C=
NM_197957.3:c.171+17095C=	NP_932061.1:n.171+17095C=
NR_073137.1:n.470C=
XR_429315.2:n.633C=
XR_943450.1:n.714C=
XR_943451.1:n.730C=
XR_943452.1:n.676C=
NM_001320415.1:c.157C=	NP_001307344.1:p.Pro53=
XM_017021312.2:c.157C=	XP_016876801.1:p.Pro53=
XM_017021313.1:c.157C=	XP_016876802.1:p.Pro53=
XR_001750326.2:n.691C=
XR_001750327.2:n.610C=
XR_002957553.1:n.1124C=
XR_943450.3:n.714C=
XR_943451.3:n.730C=
XR_943452.3:n.675C=
NM_001320415.2:c.157C=	NP_001307344.1:p.Pro53=
NM_002382.5:c.346C= MANE Select	NP_002373.3:p.Pro116=
NM_145112.3:c.319C=	NP_660087.1:p.Pro107=
NM_145113.3:c.*135C=	NP_660088.1:n.*135C=
NM_001271069.2:c.144+17095C=	NP_001257998.1:n.144+17095C=
NM_197957.4:c.171+17095C=	NP_932061.1:n.171+17095C=