Canonical Allele Identifier: CA10591386

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067615C>G , CM000679.2:g.43067615C>G	GRCh38
NC_000017.10:g.41219632C>G , CM000679.1:g.41219632C>G	GRCh37
NC_000017.9:g.38473158C>G	NCBI36
NG_005905.2:g.150369G>C , LRG_292:g.150369G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5067G>C MANE Select	NP_009225.1:p.Met1689Ile
ENST00000357654.9:c.5067G>C MANE Select	ENSP00000350283.3:p.Met1689Ile
NM_007294.3:c.5067G>C , LRG_292t1:c.5067G>C	NP_009225.1:p.Met1689Ile
NM_007297.3:c.4926G>C	NP_009228.2:p.Met1642Ile
NM_007297.4:c.4926G>C	NP_009228.2:p.Met1642Ile
NM_007298.3:c.1755G>C	NP_009229.2:p.Met585Ile
NM_007299.3:c.1755G>C	NP_009230.2:p.Met585Ile
NM_007299.4:c.1755G>C	NP_009230.2:p.Met585Ile
NM_007300.3:c.5130G>C	NP_009231.2:p.Met1710Ile
NM_007300.4:c.5130G>C	NP_009231.2:p.Met1710Ile
NR_027676.1:n.5203G>C
NR_027676.2:n.5244G>C
ENST00000352993.7:c.1641G>C	ENSP00000312236.5:p.Met547Ile
ENST00000357654.7:c.5067G>C	ENSP00000350283.3:p.Met1689Ile
ENST00000461221.5:c.*4850G>C	ENSP00000418548.1:n.*4850G>C
ENST00000461574.2:c.5064G>C	ENSP00000417241.2:p.Met1688Ile
ENST00000468300.5:c.1755G>C	ENSP00000417148.1:p.Met585Ile
ENST00000470026.6:c.5067G>C	ENSP00000419274.2:p.Met1689Ile
ENST00000471181.6:c.5130G>C	ENSP00000418960.2:p.Met1710Ile
ENST00000471181.7:c.5130G>C	ENSP00000418960.2:p.Met1710Ile
ENST00000472490.1:n.220G>C
ENST00000473961.6:c.4941G>C	ENSP00000420201.2:p.Met1647Ile
ENST00000476777.6:c.5061G>C	ENSP00000417554.2:p.Met1687Ile
ENST00000477152.6:c.4989G>C	ENSP00000419988.2:p.Met1663Ile
ENST00000478531.5:c.1755G>C	ENSP00000420412.1:p.Met585Ile
ENST00000478531.6:c.1755G>C	ENSP00000420412.2:p.Met585Ile
ENST00000484087.5:c.1380G>C	ENSP00000419481.1:p.Met460Ile
ENST00000484087.6:c.1629G>C	ENSP00000419481.2:p.Met543Ile
ENST00000489037.2:c.4989G>C	ENSP00000420781.2:p.Met1663Ile
ENST00000491747.6:c.1755G>C	ENSP00000420705.2:p.Met585Ile
ENST00000493795.5:c.4926G>C	ENSP00000418775.1:p.Met1642Ile
ENST00000493919.5:c.1617G>C	ENSP00000418819.1:p.Met539Ile
ENST00000493919.6:c.1617G>C	ENSP00000418819.2:p.Met539Ile
ENST00000494123.6:c.5067G>C	ENSP00000419103.2:p.Met1689Ile
ENST00000497488.2:c.4179G>C	ENSP00000418986.2:p.Met1393Ile
ENST00000586385.5:c.5-3664G>C	ENSP00000465818.1:n.5-3664G>C
ENST00000591534.5:c.540G>C	ENSP00000467329.1:p.Met180Ile
ENST00000591849.5:c.-98-17425G>C	ENSP00000465347.1:n.-98-17425G>C
ENST00000618469.2:c.5067G>C	ENSP00000478114.2:p.Met1689Ile
ENST00000634433.2:c.4944G>C	ENSP00000489431.2:p.Met1648Ile
ENST00000644379.1:c.1454G>C
ENST00000644379.2:c.5133G>C	ENSP00000496570.2:p.Met1711Ile
ENST00000644555.2:c.1617G>C	ENSP00000494614.2:p.Met539Ile
ENST00000652672.2:c.4926G>C	ENSP00000498906.2:p.Met1642Ile