Canonical Allele Identifier: CA001536

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54527
• ClinVar RCV Id: RCV000047791 ; RCV000077513 ; RCV000445000 ; RCV000222520 ; RCV002496716
• dbSNP Id: rs80357063
• gnomAD v2: 17-41245239-G-T
• MyVariant Identifiers: chr17:g.41245239G>T (hg19) ; chr17:g.43093222G>T (hg38)
• PubMed: PMID:9808526 ; PMID:10866029 ; PMID:15340362 ; PMID:16267036 ; PMID:19941162 ; PMID:22006311 ; PMID:25452441 ; PMID:25525159 ; PMID:26295337

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093222G>T , CM000679.2:g.43093222G>T	GRCh38
NC_000017.10:g.41245239G>T , CM000679.1:g.41245239G>T	GRCh37
NC_000017.9:g.38498765G>T	NCBI36
NG_005905.2:g.124762C>A , LRG_292:g.124762C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2373C>A
ENST00000461574.2:c.2309C>A	ENSP00000417241.2:p.Ser770Ter
ENST00000470026.6:c.2309C>A	ENSP00000419274.2:p.Ser770Ter
ENST00000473961.6:c.2183C>A	ENSP00000420201.2:p.Ser728Ter
ENST00000476777.6:c.2306C>A	ENSP00000417554.2:p.Ser769Ter
ENST00000477152.6:c.2231C>A	ENSP00000419988.2:p.Ser744Ter
ENST00000478531.6:c.784+1522C>A	ENSP00000420412.2:n.784+1522C>A
ENST00000489037.2:c.2231C>A	ENSP00000420781.2:p.Ser744Ter
ENST00000493919.6:c.646+1522C>A	ENSP00000418819.2:n.646+1522C>A
ENST00000494123.6:c.2309C>A	ENSP00000419103.2:p.Ser770Ter
ENST00000497488.2:c.1421C>A	ENSP00000418986.2:p.Ser474Ter
ENST00000618469.2:c.2309C>A	ENSP00000478114.2:p.Ser770Ter
ENST00000634433.2:c.2186C>A	ENSP00000489431.2:p.Ser729Ter
ENST00000644379.2:c.2309C>A	ENSP00000496570.2:p.Ser770Ter
ENST00000644555.2:c.646+1522C>A	ENSP00000494614.2:n.646+1522C>A
ENST00000652672.2:c.2168C>A	ENSP00000498906.2:p.Ser723Ter
ENST00000484087.6:c.664+1522C>A	ENSP00000419481.2:n.664+1522C>A
ENST00000700182.1:c.706+1522C>A	ENSP00000514849.1:n.706+1522C>A
ENST00000357654.9:c.2309C>A MANE Select	ENSP00000350283.3:p.Ser770Ter
ENST00000471181.7:c.2309C>A	ENSP00000418960.2:p.Ser770Ter
ENST00000352993.7:c.671-2190C>A	ENSP00000312236.5:n.671-2190C>A
ENST00000354071.7:c.2309C>A	ENSP00000326002.7:p.Ser770Ter
ENST00000357654.7:c.2309C>A	ENSP00000350283.3:p.Ser770Ter
ENST00000461221.5:c.*2092C>A	ENSP00000418548.1:n.*2092C>A
ENST00000468300.5:c.787+1522C>A	ENSP00000417148.1:n.787+1522C>A
ENST00000471181.6:c.2309C>A	ENSP00000418960.2:p.Ser770Ter
ENST00000478531.5:c.784+1522C>A	ENSP00000420412.1:n.784+1522C>A
ENST00000484087.5:c.409+1522C>A	ENSP00000419481.1:n.409+1522C>A
ENST00000487825.5:c.412+1522C>A	ENSP00000418212.1:n.412+1522C>A
ENST00000491747.6:c.787+1522C>A	ENSP00000420705.2:n.787+1522C>A
ENST00000493795.5:c.2168C>A	ENSP00000418775.1:p.Ser723Ter
ENST00000493919.5:c.646+1522C>A	ENSP00000418819.1:n.646+1522C>A
ENST00000586385.5:c.5-29271C>A	ENSP00000465818.1:n.5-29271C>A
ENST00000591534.5:c.-43-18701C>A	ENSP00000467329.1:n.-43-18701C>A
ENST00000591849.5:c.-99+32049C>A	ENSP00000465347.1:n.-99+32049C>A
ENST00000634433.1:c.2186C>A	ENSP00000489431.1:p.Ser729Ter
NM_007294.3:c.2309C>A , LRG_292t1:c.2309C>A	NP_009225.1:p.Ser770Ter
NM_007297.3:c.2168C>A	NP_009228.2:p.Ser723Ter
NM_007298.3:c.787+1522C>A	NP_009229.2:n.787+1522C>A
NM_007299.3:c.787+1522C>A	NP_009230.2:n.787+1522C>A
NM_007300.3:c.2309C>A	NP_009231.2:p.Ser770Ter
NR_027676.1:n.2445C>A
NM_007294.4:c.2309C>A MANE Select	NP_009225.1:p.Ser770Ter
NM_007297.4:c.2168C>A	NP_009228.2:p.Ser723Ter
NM_007299.4:c.787+1522C>A	NP_009230.2:n.787+1522C>A
NM_007300.4:c.2309C>A	NP_009231.2:p.Ser770Ter
NR_027676.2:n.2486C>A