Canonical Allele Identifier: CA002994

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071185A>G , CM000679.2:g.43071185A>G	GRCh38
NC_000017.10:g.41223202A>G , CM000679.1:g.41223202A>G	GRCh37
NC_000017.9:g.38476728A>G	NCBI36
NG_005905.2:g.146799T>C , LRG_292:g.146799T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4726T>C	ENSP00000417241.2:p.Ser1576Pro
ENST00000470026.6:c.4729T>C	ENSP00000419274.2:p.Ser1577Pro
ENST00000473961.6:c.4603T>C	ENSP00000420201.2:p.Ser1535Pro
ENST00000476777.6:c.4723T>C	ENSP00000417554.2:p.Ser1575Pro
ENST00000477152.6:c.4651T>C	ENSP00000419988.2:p.Ser1551Pro
ENST00000478531.6:c.1417T>C	ENSP00000420412.2:p.Ser473Pro
ENST00000489037.2:c.4651T>C	ENSP00000420781.2:p.Ser1551Pro
ENST00000493919.6:c.1279T>C	ENSP00000418819.2:p.Ser427Pro
ENST00000494123.6:c.4729T>C	ENSP00000419103.2:p.Ser1577Pro
ENST00000497488.2:c.3841T>C	ENSP00000418986.2:p.Ser1281Pro
ENST00000618469.2:c.4729T>C	ENSP00000478114.2:p.Ser1577Pro
ENST00000634433.2:c.4606T>C	ENSP00000489431.2:p.Ser1536Pro
ENST00000644379.2:c.4795T>C	ENSP00000496570.2:p.Ser1599Pro
ENST00000644555.2:c.1279T>C	ENSP00000494614.2:p.Ser427Pro
ENST00000652672.2:c.4588T>C	ENSP00000498906.2:p.Ser1530Pro
ENST00000484087.6:c.1291T>C	ENSP00000419481.2:p.Ser431Pro
ENST00000700182.1:c.1336T>C	ENSP00000514849.1:p.Ser446Pro
ENST00000357654.9:c.4729T>C MANE Select	ENSP00000350283.3:p.Ser1577Pro
ENST00000471181.7:c.4792T>C	ENSP00000418960.2:p.Ser1598Pro
ENST00000644379.1:c.1116T>C
ENST00000352993.7:c.1303T>C	ENSP00000312236.5:p.Ser435Pro
ENST00000357654.7:c.4729T>C	ENSP00000350283.3:p.Ser1577Pro
ENST00000461221.5:c.*4512T>C	ENSP00000418548.1:n.*4512T>C
ENST00000468300.5:c.1417T>C	ENSP00000417148.1:p.Ser473Pro
ENST00000471181.6:c.4792T>C	ENSP00000418960.2:p.Ser1598Pro
ENST00000478531.5:c.1417T>C	ENSP00000420412.1:p.Ser473Pro
ENST00000484087.5:c.1042T>C	ENSP00000419481.1:p.Ser348Pro
ENST00000491747.6:c.1417T>C	ENSP00000420705.2:p.Ser473Pro
ENST00000493795.5:c.4588T>C	ENSP00000418775.1:p.Ser1530Pro
ENST00000493919.5:c.1279T>C	ENSP00000418819.1:p.Ser427Pro
ENST00000586385.5:c.5-7234T>C	ENSP00000465818.1:n.5-7234T>C
ENST00000591534.5:c.202T>C	ENSP00000467329.1:p.Ser68Pro
ENST00000591849.5:c.-98-20995T>C	ENSP00000465347.1:n.-98-20995T>C
NM_007294.3:c.4729T>C , LRG_292t1:c.4729T>C	NP_009225.1:p.Ser1577Pro
NM_007297.3:c.4588T>C	NP_009228.2:p.Ser1530Pro
NM_007298.3:c.1417T>C	NP_009229.2:p.Ser473Pro
NM_007299.3:c.1417T>C	NP_009230.2:p.Ser473Pro
NM_007300.3:c.4792T>C	NP_009231.2:p.Ser1598Pro
NR_027676.1:n.4865T>C
NM_007294.4:c.4729T>C MANE Select	NP_009225.1:p.Ser1577Pro
NM_007297.4:c.4588T>C	NP_009228.2:p.Ser1530Pro
NM_007299.4:c.1417T>C	NP_009230.2:p.Ser473Pro
NM_007300.4:c.4792T>C	NP_009231.2:p.Ser1598Pro
NR_027676.2:n.4906T>C