Canonical Allele Identifier: CA053462

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070972T>C , CM000679.2:g.43070972T>C	GRCh38
NC_000017.10:g.41222989T>C , CM000679.1:g.41222989T>C	GRCh37
NC_000017.9:g.38476515T>C	NCBI36
NG_005905.2:g.147012A>G , LRG_292:g.147012A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.4942A>G MANE Select	NP_009225.1:p.Lys1648Glu
ENST00000357654.9:c.4942A>G MANE Select	ENSP00000350283.3:p.Lys1648Glu
NM_007294.3:c.4942A>G , LRG_292t1:c.4942A>G	NP_009225.1:p.Lys1648Glu
NM_007297.3:c.4801A>G	NP_009228.2:p.Lys1601Glu
NM_007297.4:c.4801A>G	NP_009228.2:p.Lys1601Glu
NM_007298.3:c.1630A>G	NP_009229.2:p.Lys544Glu
NM_007299.3:c.1630A>G	NP_009230.2:p.Lys544Glu
NM_007299.4:c.1630A>G	NP_009230.2:p.Lys544Glu
NM_007300.3:c.5005A>G	NP_009231.2:p.Lys1669Glu
NM_007300.4:c.5005A>G	NP_009231.2:p.Lys1669Glu
NR_027676.1:n.5078A>G
NR_027676.2:n.5119A>G
ENST00000352993.7:c.1516A>G	ENSP00000312236.5:p.Lys506Glu
ENST00000357654.7:c.4942A>G	ENSP00000350283.3:p.Lys1648Glu
ENST00000461221.5:c.*4725A>G	ENSP00000418548.1:n.*4725A>G
ENST00000461574.2:c.4939A>G	ENSP00000417241.2:p.Lys1647Glu
ENST00000468300.5:c.1630A>G	ENSP00000417148.1:p.Lys544Glu
ENST00000470026.6:c.4942A>G	ENSP00000419274.2:p.Lys1648Glu
ENST00000471181.6:c.5005A>G	ENSP00000418960.2:p.Lys1669Glu
ENST00000471181.7:c.5005A>G	ENSP00000418960.2:p.Lys1669Glu
ENST00000472490.1:n.95A>G
ENST00000473961.6:c.4816A>G	ENSP00000420201.2:p.Lys1606Glu
ENST00000476777.6:c.4936A>G	ENSP00000417554.2:p.Lys1646Glu
ENST00000477152.6:c.4864A>G	ENSP00000419988.2:p.Lys1622Glu
ENST00000478531.5:c.1630A>G	ENSP00000420412.1:p.Lys544Glu
ENST00000478531.6:c.1630A>G	ENSP00000420412.2:p.Lys544Glu
ENST00000484087.5:c.1255A>G	ENSP00000419481.1:p.Lys419Glu
ENST00000484087.6:c.1504A>G	ENSP00000419481.2:p.Lys502Glu
ENST00000489037.2:c.4864A>G	ENSP00000420781.2:p.Lys1622Glu
ENST00000491747.6:c.1630A>G	ENSP00000420705.2:p.Lys544Glu
ENST00000493795.5:c.4801A>G	ENSP00000418775.1:p.Lys1601Glu
ENST00000493919.5:c.1492A>G	ENSP00000418819.1:p.Lys498Glu
ENST00000493919.6:c.1492A>G	ENSP00000418819.2:p.Lys498Glu
ENST00000494123.6:c.4942A>G	ENSP00000419103.2:p.Lys1648Glu
ENST00000497488.2:c.4054A>G	ENSP00000418986.2:p.Lys1352Glu
ENST00000586385.5:c.5-7021A>G	ENSP00000465818.1:n.5-7021A>G
ENST00000591534.5:c.415A>G	ENSP00000467329.1:p.Lys139Glu
ENST00000591849.5:c.-98-20782A>G	ENSP00000465347.1:n.-98-20782A>G
ENST00000618469.2:c.4942A>G	ENSP00000478114.2:p.Lys1648Glu
ENST00000634433.2:c.4819A>G	ENSP00000489431.2:p.Lys1607Glu
ENST00000644379.1:c.1329A>G
ENST00000644379.2:c.5008A>G	ENSP00000496570.2:p.Lys1670Glu
ENST00000644555.2:c.1492A>G	ENSP00000494614.2:p.Lys498Glu
ENST00000652672.2:c.4801A>G	ENSP00000498906.2:p.Lys1601Glu
ENST00000700182.1:c.1549A>G	ENSP00000514849.1:p.Lys517Glu