Canonical Allele Identifier: CA10590178

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045696G>C , CM000679.2:g.43045696G>C	GRCh38
NC_000017.10:g.41197713G>C , CM000679.1:g.41197713G>C	GRCh37
NC_000017.9:g.38451239G>C	NCBI36
NG_005905.2:g.172288C>G , LRG_292:g.172288C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5574C>G MANE Select	NP_009225.1:p.Ile1858Met
ENST00000357654.9:c.5574C>G MANE Select	ENSP00000350283.3:p.Ile1858Met
NM_007294.3:c.5574C>G , LRG_292t1:c.5574C>G	NP_009225.1:p.Ile1858Met
NM_007297.3:c.5433C>G	NP_009228.2:p.Ile1811Met
NM_007297.4:c.5433C>G	NP_009228.2:p.Ile1811Met
NM_007298.3:c.2262C>G	NP_009229.2:p.Ile754Met
NM_007299.3:c.*88C>G	NP_009230.2:n.*88C>G
NM_007299.4:c.*88C>G	NP_009230.2:n.*88C>G
NM_007300.3:c.5637C>G	NP_009231.2:p.Ile1879Met
NM_007300.4:c.5637C>G	NP_009231.2:p.Ile1879Met
NR_027676.1:n.5710C>G
NR_027676.2:n.5751C>G
ENST00000352993.7:c.2148C>G	ENSP00000312236.5:p.Ile716Met
ENST00000357654.7:c.5574C>G	ENSP00000350283.3:p.Ile1858Met
ENST00000461221.5:c.*5357C>G	ENSP00000418548.1:n.*5357C>G
ENST00000461574.2:c.5571C>G	ENSP00000417241.2:p.Ile1857Met
ENST00000468300.5:c.*88C>G	ENSP00000417148.1:n.*88C>G
ENST00000470026.6:c.5574C>G	ENSP00000419274.2:p.Ile1858Met
ENST00000471181.6:c.5637C>G	ENSP00000418960.2:p.Ile1879Met
ENST00000471181.7:c.5637C>G	ENSP00000418960.2:p.Ile1879Met
ENST00000473961.6:c.5448C>G	ENSP00000420201.2:p.Ile1816Met
ENST00000476777.6:c.5568C>G	ENSP00000417554.2:p.Ile1856Met
ENST00000477152.6:c.5496C>G	ENSP00000419988.2:p.Ile1832Met
ENST00000478531.6:c.2262C>G	ENSP00000420412.2:p.Ile754Met
ENST00000484087.6:c.2136C>G	ENSP00000419481.2:p.Ile712Met
ENST00000489037.2:c.5496C>G	ENSP00000420781.2:p.Ile1832Met
ENST00000491747.6:c.2262C>G	ENSP00000420705.2:p.Ile754Met
ENST00000493795.5:c.5433C>G	ENSP00000418775.1:p.Ile1811Met
ENST00000493919.6:c.2124C>G	ENSP00000418819.2:p.Ile708Met
ENST00000494123.6:c.5574C>G	ENSP00000419103.2:p.Ile1858Met
ENST00000497488.2:c.4686C>G	ENSP00000418986.2:p.Ile1562Met
ENST00000586385.5:c.504C>G	ENSP00000465818.1:p.Ile168Met
ENST00000591534.5:c.1047C>G	ENSP00000467329.1:p.Ile349Met
ENST00000591849.5:c.273C>G	ENSP00000465347.1:p.Ile91Met
ENST00000618469.2:c.5574C>G	ENSP00000478114.2:p.Ile1858Met
ENST00000634433.2:c.5451C>G	ENSP00000489431.2:p.Ile1817Met
ENST00000644379.1:c.1961C>G
ENST00000644379.2:c.5640C>G	ENSP00000496570.2:p.Ile1880Met
ENST00000644555.2:c.2124C>G	ENSP00000494614.2:p.Ile708Met
ENST00000652672.2:c.5433C>G	ENSP00000498906.2:p.Ile1811Met
ENST00000700081.1:n.1457C>G
ENST00000700082.1:n.938C>G