Canonical Allele Identifier: CA003607

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55585
• ClinVar RCV Id: RCV000077625 ; RCV000131632 ; RCV000587361 ; RCV001080025
• dbSNP Id: rs80357286
• ExAC: 17:41199671 T / C
• gnomAD v2: 17-41199671-T-C
• gnomAD v3: 17-43047654-T-C
• gnomAD v4: 17-43047654-T-C
• COSMIC: COSM1179147
• MyVariant Identifiers: chr17:g.41199671T>C (hg19) ; chr17:g.43047654T>C (hg38)
• PubMed: PMID:10923033 ; PMID:10946236 ; PMID:15172985 ; PMID:15385441 ; PMID:16267036 ; PMID:17305420 ; PMID:20516115 ; PMID:23265383 ; PMID:26689913

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047654T>C , CM000679.2:g.43047654T>C	GRCh38
NC_000017.10:g.41199671T>C , CM000679.1:g.41199671T>C	GRCh37
NC_000017.9:g.38453197T>C	NCBI36
NG_005905.2:g.170330A>G , LRG_292:g.170330A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5453A>G	ENSP00000417241.2:p.Asn1818Ser
ENST00000470026.6:c.5456A>G	ENSP00000419274.2:p.Asn1819Ser
ENST00000473961.6:c.5330A>G	ENSP00000420201.2:p.Asn1777Ser
ENST00000476777.6:c.5450A>G	ENSP00000417554.2:p.Asn1817Ser
ENST00000477152.6:c.5378A>G	ENSP00000419988.2:p.Asn1793Ser
ENST00000478531.6:c.2144A>G	ENSP00000420412.2:p.Asn715Ser
ENST00000489037.2:c.5378A>G	ENSP00000420781.2:p.Asn1793Ser
ENST00000493919.6:c.2006A>G	ENSP00000418819.2:p.Asn669Ser
ENST00000494123.6:c.5456A>G	ENSP00000419103.2:p.Asn1819Ser
ENST00000497488.2:c.4568A>G	ENSP00000418986.2:p.Asn1523Ser
ENST00000618469.2:c.5456A>G	ENSP00000478114.2:p.Asn1819Ser
ENST00000634433.2:c.5333A>G	ENSP00000489431.2:p.Asn1778Ser
ENST00000644379.2:c.5522A>G	ENSP00000496570.2:p.Asn1841Ser
ENST00000644555.2:c.2006A>G	ENSP00000494614.2:p.Asn669Ser
ENST00000652672.2:c.5315A>G	ENSP00000498906.2:p.Asn1772Ser
ENST00000484087.6:c.2018A>G	ENSP00000419481.2:p.Asn673Ser
ENST00000700081.1:n.1339A>G
ENST00000700082.1:n.820A>G
ENST00000357654.9:c.5456A>G MANE Select	ENSP00000350283.3:p.Asn1819Ser
ENST00000471181.7:c.5519A>G	ENSP00000418960.2:p.Asn1840Ser
ENST00000644379.1:c.1843A>G
ENST00000352993.7:c.2030A>G	ENSP00000312236.5:p.Asn677Ser
ENST00000357654.7:c.5456A>G	ENSP00000350283.3:p.Asn1819Ser
ENST00000461221.5:c.*5239A>G	ENSP00000418548.1:n.*5239A>G
ENST00000468300.5:c.2070A>G	ENSP00000417148.1:p.Gln690=
ENST00000471181.6:c.5519A>G	ENSP00000418960.2:p.Asn1840Ser
ENST00000491747.6:c.2144A>G	ENSP00000420705.2:p.Asn715Ser
ENST00000493795.5:c.5315A>G	ENSP00000418775.1:p.Asn1772Ser
ENST00000586385.5:c.386A>G	ENSP00000465818.1:p.Asn129Ser
ENST00000591534.5:c.929A>G	ENSP00000467329.1:p.Asn310Ser
ENST00000591849.5:c.155A>G	ENSP00000465347.1:p.Asn52Ser
NM_007294.3:c.5456A>G , LRG_292t1:c.5456A>G	NP_009225.1:p.Asn1819Ser
NM_007297.3:c.5315A>G	NP_009228.2:p.Asn1772Ser
NM_007298.3:c.2144A>G	NP_009229.2:p.Asn715Ser
NM_007299.3:c.2070A>G	NP_009230.2:p.Gln690=
NM_007300.3:c.5519A>G	NP_009231.2:p.Asn1840Ser
NR_027676.1:n.5592A>G
NM_007294.4:c.5456A>G MANE Select	NP_009225.1:p.Asn1819Ser
NM_007297.4:c.5315A>G	NP_009228.2:p.Asn1772Ser
NM_007299.4:c.2070A>G	NP_009230.2:p.Gln690=
NM_007300.4:c.5519A>G	NP_009231.2:p.Asn1840Ser
NR_027676.2:n.5633A>G