Canonical Allele Identifier: CA003546
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 37663
dbSNP Id: rs80357055

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43049140G>T , CM000679.2:g.43049140G>T GRCh38
NC_000017.10:g.41201157G>T , CM000679.1:g.41201157G>T GRCh37
NC_000017.9:g.38454683G>T NCBI36
NG_005905.2:g.168844C>A , LRG_292:g.168844C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5384C>A ENSP00000417241.2:p.Ser1795Ter
ENST00000470026.6:c.5387C>A ENSP00000419274.2:p.Ser1796Ter
ENST00000473961.6:c.5261C>A ENSP00000420201.2:p.Ser1754Ter
ENST00000476777.6:c.5381C>A ENSP00000417554.2:p.Ser1794Ter
ENST00000477152.6:c.5309C>A ENSP00000419988.2:p.Ser1770Ter
ENST00000478531.6:c.2075C>A ENSP00000420412.2:p.Ser692Ter
ENST00000489037.2:c.5309C>A ENSP00000420781.2:p.Ser1770Ter
ENST00000493919.6:c.1937C>A ENSP00000418819.2:p.Ser646Ter
ENST00000494123.6:c.5387C>A ENSP00000419103.2:p.Ser1796Ter
ENST00000497488.2:c.4499C>A ENSP00000418986.2:p.Ser1500Ter
ENST00000618469.2:c.5387C>A ENSP00000478114.2:p.Ser1796Ter
ENST00000634433.2:c.5264C>A ENSP00000489431.2:p.Ser1755Ter
ENST00000644379.2:c.5453C>A ENSP00000496570.2:p.Ser1818Ter
ENST00000644555.2:c.1937C>A ENSP00000494614.2:p.Ser646Ter
ENST00000652672.2:c.5246C>A ENSP00000498906.2:p.Ser1749Ter
ENST00000484087.6:c.1949C>A ENSP00000419481.2:p.Ser650Ter
ENST00000700081.1:n.1270C>A
ENST00000357654.9:c.5387C>A MANE Select ENSP00000350283.3:p.Ser1796Ter
ENST00000471181.7:c.5450C>A ENSP00000418960.2:p.Ser1817Ter
ENST00000644379.1:c.1774C>A
ENST00000352993.7:c.1961C>A ENSP00000312236.5:p.Ser654Ter
ENST00000357654.7:c.5387C>A ENSP00000350283.3:p.Ser1796Ter
ENST00000461221.5:c.*5170C>A ENSP00000418548.1:n.*5170C>A
ENST00000468300.5:c.2021-1437C>A ENSP00000417148.1:n.2021-1437C>A
ENST00000471181.6:c.5450C>A ENSP00000418960.2:p.Ser1817Ter
ENST00000491747.6:c.2075C>A ENSP00000420705.2:p.Ser692Ter
ENST00000493795.5:c.5246C>A ENSP00000418775.1:p.Ser1749Ter
ENST00000586385.5:c.317C>A ENSP00000465818.1:p.Ser106Ter
ENST00000591534.5:c.860C>A ENSP00000467329.1:p.Ser287Ter
ENST00000591849.5:c.86C>A ENSP00000465347.1:p.Ser29Ter
NM_007294.3:c.5387C>A , LRG_292t1:c.5387C>A NP_009225.1:p.Ser1796Ter
NM_007297.3:c.5246C>A NP_009228.2:p.Ser1749Ter
NM_007298.3:c.2075C>A NP_009229.2:p.Ser692Ter
NM_007299.3:c.2021-1437C>A NP_009230.2:n.2021-1437C>A
NM_007300.3:c.5450C>A NP_009231.2:p.Ser1817Ter
NR_027676.1:n.5523C>A
NM_007294.4:c.5387C>A MANE Select NP_009225.1:p.Ser1796Ter
NM_007297.4:c.5246C>A NP_009228.2:p.Ser1749Ter
NM_007299.4:c.2021-1437C>A NP_009230.2:n.2021-1437C>A
NM_007300.4:c.5450C>A NP_009231.2:p.Ser1817Ter
NR_027676.2:n.5564C>A