Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076616A= , CM000676.2:g.65076616A=	GRCh38
NC_000014.8:g.65543334A= , CM000676.1:g.65543334A=	GRCh37
NC_000014.7:g.64613087A=	NCBI36
NG_029830.1:g.30894T= , LRG_530:g.30894T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.124T=	ENSP00000452206.2:p.Tyr42=
ENST00000556979.6:c.*796T=	ENSP00000452378.1:n.*796T=
ENST00000358664.9:c.343T= MANE Select	ENSP00000351490.4:p.Tyr115=
ENST00000651648.1:c.145-6247T=	ENSP00000498863.1:n.145-6247T=
ENST00000284165.10:c.*1187T=	ENSP00000284165.6:n.*1187T=
ENST00000341653.6:c.171+17092T=	ENSP00000342482.2:n.171+17092T=
ENST00000358402.8:c.316T=	ENSP00000351175.4:p.Tyr106=
ENST00000358664.8:c.343T=	ENSP00000351490.4:p.Tyr115=
ENST00000394606.6:c.*116T=	ENSP00000378104.2:n.*116T=
ENST00000553928.5:c.*132T=	ENSP00000451907.1:n.*132T=
ENST00000555419.5:c.235T=	ENSP00000452405.1:p.Tyr79=
ENST00000555932.5:c.84T=	ENSP00000450763.1:p.Thr28=
ENST00000556892.5:c.124T=	ENSP00000452206.1:p.Tyr42=
ENST00000557277.5:c.154T=	ENSP00000450955.1:p.Tyr52=
ENST00000618858.4:c.*132T=	ENSP00000480127.1:n.*132T=
NM_001271069.1:c.144+17092T=	NP_001257998.1:n.144+17092T=
NM_002382.4:c.343T=	NP_002373.3:p.Tyr115=
NM_145112.2:c.316T=	NP_660087.1:p.Tyr106=
NM_145113.2:c.*132T=	NP_660088.1:n.*132T=
NM_197957.3:c.171+17092T=	NP_932061.1:n.171+17092T=
NR_073137.1:n.467T=
XR_429315.2:n.630T=
XR_943450.1:n.711T=
XR_943451.1:n.727T=
XR_943452.1:n.673T=
NM_001320415.1:c.154T=	NP_001307344.1:p.Tyr52=
XM_017021312.2:c.154T=	XP_016876801.1:p.Tyr52=
XM_017021313.1:c.154T=	XP_016876802.1:p.Tyr52=
XR_001750326.2:n.688T=
XR_001750327.2:n.607T=
XR_002957553.1:n.1121T=
XR_943450.3:n.711T=
XR_943451.3:n.727T=
XR_943452.3:n.672T=
NM_001320415.2:c.154T=	NP_001307344.1:p.Tyr52=
NM_002382.5:c.343T= MANE Select	NP_002373.3:p.Tyr115=
NM_145112.3:c.316T=	NP_660087.1:p.Tyr106=
NM_145113.3:c.*132T=	NP_660088.1:n.*132T=
NM_001271069.2:c.144+17092T=	NP_001257998.1:n.144+17092T=
NM_197957.4:c.171+17092T=	NP_932061.1:n.171+17092T=