Canonical Allele Identifier: CA054791

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049147C>T , CM000679.2:g.43049147C>T	GRCh38
NC_000017.10:g.41201164C>T , CM000679.1:g.41201164C>T	GRCh37
NC_000017.9:g.38454690C>T	NCBI36
NG_005905.2:g.168837G>A , LRG_292:g.168837G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5380G>A MANE Select	NP_009225.1:p.Glu1794Lys
ENST00000357654.9:c.5380G>A MANE Select	ENSP00000350283.3:p.Glu1794Lys
NM_007294.3:c.5380G>A , LRG_292t1:c.5380G>A	NP_009225.1:p.Glu1794Lys
NM_007297.3:c.5239G>A	NP_009228.2:p.Glu1747Lys
NM_007297.4:c.5239G>A	NP_009228.2:p.Glu1747Lys
NM_007298.3:c.2068G>A	NP_009229.2:p.Glu690Lys
NM_007299.3:c.2021-1444G>A	NP_009230.2:n.2021-1444G>A
NM_007299.4:c.2021-1444G>A	NP_009230.2:n.2021-1444G>A
NM_007300.3:c.5443G>A	NP_009231.2:p.Glu1815Lys
NM_007300.4:c.5443G>A	NP_009231.2:p.Glu1815Lys
NR_027676.1:n.5516G>A
NR_027676.2:n.5557G>A
ENST00000352993.7:c.1954G>A	ENSP00000312236.5:p.Glu652Lys
ENST00000357654.7:c.5380G>A	ENSP00000350283.3:p.Glu1794Lys
ENST00000461221.5:c.*5163G>A	ENSP00000418548.1:n.*5163G>A
ENST00000461574.2:c.5377G>A	ENSP00000417241.2:p.Glu1793Lys
ENST00000468300.5:c.2021-1444G>A	ENSP00000417148.1:n.2021-1444G>A
ENST00000470026.6:c.5380G>A	ENSP00000419274.2:p.Glu1794Lys
ENST00000471181.6:c.5443G>A	ENSP00000418960.2:p.Glu1815Lys
ENST00000471181.7:c.5443G>A	ENSP00000418960.2:p.Glu1815Lys
ENST00000473961.6:c.5254G>A	ENSP00000420201.2:p.Glu1752Lys
ENST00000476777.6:c.5374G>A	ENSP00000417554.2:p.Glu1792Lys
ENST00000477152.6:c.5302G>A	ENSP00000419988.2:p.Glu1768Lys
ENST00000478531.6:c.2068G>A	ENSP00000420412.2:p.Glu690Lys
ENST00000484087.6:c.1942G>A	ENSP00000419481.2:p.Glu648Lys
ENST00000489037.2:c.5302G>A	ENSP00000420781.2:p.Glu1768Lys
ENST00000491747.6:c.2068G>A	ENSP00000420705.2:p.Glu690Lys
ENST00000493795.5:c.5239G>A	ENSP00000418775.1:p.Glu1747Lys
ENST00000493919.6:c.1930G>A	ENSP00000418819.2:p.Glu644Lys
ENST00000494123.6:c.5380G>A	ENSP00000419103.2:p.Glu1794Lys
ENST00000497488.2:c.4492G>A	ENSP00000418986.2:p.Glu1498Lys
ENST00000586385.5:c.310G>A	ENSP00000465818.1:p.Glu104Lys
ENST00000591534.5:c.853G>A	ENSP00000467329.1:p.Glu285Lys
ENST00000591849.5:c.79G>A	ENSP00000465347.1:p.Glu27Lys
ENST00000618469.2:c.5380G>A	ENSP00000478114.2:p.Glu1794Lys
ENST00000634433.2:c.5257G>A	ENSP00000489431.2:p.Glu1753Lys
ENST00000644379.1:c.1767G>A
ENST00000644379.2:c.5446G>A	ENSP00000496570.2:p.Glu1816Lys
ENST00000644555.2:c.1930G>A	ENSP00000494614.2:p.Glu644Lys
ENST00000652672.2:c.5239G>A	ENSP00000498906.2:p.Glu1747Lys
ENST00000700081.1:n.1263G>A