Canonical Allele Identifier: CA10600128

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094563C>T , CM000679.2:g.43094563C>T	GRCh38
NC_000017.10:g.41246580C>T , CM000679.1:g.41246580C>T	GRCh37
NC_000017.9:g.38500106C>T	NCBI36
NG_005905.2:g.123421G>A , LRG_292:g.123421G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.968G>A MANE Select	NP_009225.1:p.Gly323Glu
ENST00000357654.9:c.968G>A MANE Select	ENSP00000350283.3:p.Gly323Glu
NM_007294.3:c.968G>A , LRG_292t1:c.968G>A	NP_009225.1:p.Gly323Glu
NM_007297.3:c.827G>A	NP_009228.2:p.Gly276Glu
NM_007297.4:c.827G>A	NP_009228.2:p.Gly276Glu
NM_007298.3:c.787+181G>A	NP_009229.2:n.787+181G>A
NM_007299.3:c.787+181G>A	NP_009230.2:n.787+181G>A
NM_007299.4:c.787+181G>A	NP_009230.2:n.787+181G>A
NM_007300.3:c.968G>A	NP_009231.2:p.Gly323Glu
NM_007300.4:c.968G>A	NP_009231.2:p.Gly323Glu
NR_027676.1:n.1104G>A
NR_027676.2:n.1145G>A
ENST00000352993.7:c.670+1283G>A	ENSP00000312236.5:n.670+1283G>A
ENST00000354071.7:c.968G>A	ENSP00000326002.7:p.Gly323Glu
ENST00000354071.8:n.1032G>A
ENST00000357654.7:c.968G>A	ENSP00000350283.3:p.Gly323Glu
ENST00000412061.3:c.319G>A
ENST00000461221.5:c.*751G>A	ENSP00000418548.1:n.*751G>A
ENST00000461574.2:c.968G>A	ENSP00000417241.2:p.Gly323Glu
ENST00000468300.5:c.787+181G>A	ENSP00000417148.1:n.787+181G>A
ENST00000470026.5:c.968G>A	ENSP00000419274.1:p.Gly323Glu
ENST00000470026.6:c.968G>A	ENSP00000419274.2:p.Gly323Glu
ENST00000471181.6:c.968G>A	ENSP00000418960.2:p.Gly323Glu
ENST00000471181.7:c.968G>A	ENSP00000418960.2:p.Gly323Glu
ENST00000473961.5:c.565G>A
ENST00000473961.6:c.842G>A	ENSP00000420201.2:p.Gly281Glu
ENST00000476777.6:c.965G>A	ENSP00000417554.2:p.Gly322Glu
ENST00000477152.5:c.890G>A	ENSP00000419988.1:p.Gly297Glu
ENST00000477152.6:c.890G>A	ENSP00000419988.2:p.Gly297Glu
ENST00000478531.5:c.784+181G>A	ENSP00000420412.1:n.784+181G>A
ENST00000478531.6:c.784+181G>A	ENSP00000420412.2:n.784+181G>A
ENST00000484087.5:c.409+181G>A	ENSP00000419481.1:n.409+181G>A
ENST00000484087.6:c.664+181G>A	ENSP00000419481.2:n.664+181G>A
ENST00000487825.5:c.412+181G>A	ENSP00000418212.1:n.412+181G>A
ENST00000489037.2:c.890G>A	ENSP00000420781.2:p.Gly297Glu
ENST00000491747.6:c.787+181G>A	ENSP00000420705.2:n.787+181G>A
ENST00000492859.5:c.*904G>A	ENSP00000420253.1:n.*904G>A
ENST00000493795.5:c.827G>A	ENSP00000418775.1:p.Gly276Glu
ENST00000493919.5:c.646+181G>A	ENSP00000418819.1:n.646+181G>A
ENST00000493919.6:c.646+181G>A	ENSP00000418819.2:n.646+181G>A
ENST00000494123.5:c.968G>A	ENSP00000419103.1:p.Gly323Glu
ENST00000494123.6:c.968G>A	ENSP00000419103.2:p.Gly323Glu
ENST00000497488.1:c.80G>A	ENSP00000418986.1:p.Gly27Glu
ENST00000497488.2:c.80G>A	ENSP00000418986.2:p.Gly27Glu
ENST00000586385.5:c.5-30612G>A	ENSP00000465818.1:n.5-30612G>A
ENST00000591534.5:c.-43-20042G>A	ENSP00000467329.1:n.-43-20042G>A
ENST00000591849.5:c.-99+30708G>A	ENSP00000465347.1:n.-99+30708G>A
ENST00000618469.2:c.968G>A	ENSP00000478114.2:p.Gly323Glu
ENST00000634433.1:c.845G>A	ENSP00000489431.1:p.Gly282Glu
ENST00000634433.2:c.845G>A	ENSP00000489431.2:p.Gly282Glu
ENST00000642945.1:c.*842G>A	ENSP00000495897.1:n.*842G>A
ENST00000644379.2:c.968G>A	ENSP00000496570.2:p.Gly323Glu
ENST00000644555.2:c.646+181G>A	ENSP00000494614.2:n.646+181G>A
ENST00000652672.1:c.827G>A	ENSP00000498906.1:p.Gly276Glu
ENST00000652672.2:c.827G>A	ENSP00000498906.2:p.Gly276Glu
ENST00000700182.1:c.706+181G>A	ENSP00000514849.1:n.706+181G>A
ENST00000700183.1:c.*976G>A	ENSP00000514850.1:n.*976G>A