Canonical Allele Identifier: CA003092

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55325
• ClinVar RCV Id: RCV000112429 ; RCV000162826 ; RCV000212188 ; RCV000779911 ; RCV001476833
• dbSNP Id: rs80357302
• gnomAD v4: 17-43070973-G-T
• MyVariant Identifiers: chr17:g.41222990G>T (hg19) ; chr17:g.43070973G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070973G>T , CM000679.2:g.43070973G>T	GRCh38
NC_000017.10:g.41222990G>T , CM000679.1:g.41222990G>T	GRCh37
NC_000017.9:g.38476516G>T	NCBI36
NG_005905.2:g.147011C>A , LRG_292:g.147011C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4938C>A	ENSP00000417241.2:p.Asn1646Lys
ENST00000470026.6:c.4941C>A	ENSP00000419274.2:p.Asn1647Lys
ENST00000473961.6:c.4815C>A	ENSP00000420201.2:p.Asn1605Lys
ENST00000476777.6:c.4935C>A	ENSP00000417554.2:p.Asn1645Lys
ENST00000477152.6:c.4863C>A	ENSP00000419988.2:p.Asn1621Lys
ENST00000478531.6:c.1629C>A	ENSP00000420412.2:p.Asn543Lys
ENST00000489037.2:c.4863C>A	ENSP00000420781.2:p.Asn1621Lys
ENST00000493919.6:c.1491C>A	ENSP00000418819.2:p.Asn497Lys
ENST00000494123.6:c.4941C>A	ENSP00000419103.2:p.Asn1647Lys
ENST00000497488.2:c.4053C>A	ENSP00000418986.2:p.Asn1351Lys
ENST00000618469.2:c.4941C>A	ENSP00000478114.2:p.Asn1647Lys
ENST00000634433.2:c.4818C>A	ENSP00000489431.2:p.Asn1606Lys
ENST00000644379.2:c.5007C>A	ENSP00000496570.2:p.Asn1669Lys
ENST00000644555.2:c.1491C>A	ENSP00000494614.2:p.Asn497Lys
ENST00000652672.2:c.4800C>A	ENSP00000498906.2:p.Asn1600Lys
ENST00000484087.6:c.1503C>A	ENSP00000419481.2:p.Asn501Lys
ENST00000700182.1:c.1548C>A	ENSP00000514849.1:p.Asn516Lys
ENST00000357654.9:c.4941C>A MANE Select	ENSP00000350283.3:p.Asn1647Lys
ENST00000471181.7:c.5004C>A	ENSP00000418960.2:p.Asn1668Lys
ENST00000644379.1:c.1328C>A
ENST00000352993.7:c.1515C>A	ENSP00000312236.5:p.Asn505Lys
ENST00000357654.7:c.4941C>A	ENSP00000350283.3:p.Asn1647Lys
ENST00000461221.5:c.*4724C>A	ENSP00000418548.1:n.*4724C>A
ENST00000468300.5:c.1629C>A	ENSP00000417148.1:p.Asn543Lys
ENST00000471181.6:c.5004C>A	ENSP00000418960.2:p.Asn1668Lys
ENST00000472490.1:n.94C>A
ENST00000478531.5:c.1629C>A	ENSP00000420412.1:p.Asn543Lys
ENST00000484087.5:c.1254C>A	ENSP00000419481.1:p.Asn418Lys
ENST00000491747.6:c.1629C>A	ENSP00000420705.2:p.Asn543Lys
ENST00000493795.5:c.4800C>A	ENSP00000418775.1:p.Asn1600Lys
ENST00000493919.5:c.1491C>A	ENSP00000418819.1:p.Asn497Lys
ENST00000586385.5:c.5-7022C>A	ENSP00000465818.1:n.5-7022C>A
ENST00000591534.5:c.414C>A	ENSP00000467329.1:p.Asn138Lys
ENST00000591849.5:c.-98-20783C>A	ENSP00000465347.1:n.-98-20783C>A
NM_007294.3:c.4941C>A , LRG_292t1:c.4941C>A	NP_009225.1:p.Asn1647Lys
NM_007297.3:c.4800C>A	NP_009228.2:p.Asn1600Lys
NM_007298.3:c.1629C>A	NP_009229.2:p.Asn543Lys
NM_007299.3:c.1629C>A	NP_009230.2:p.Asn543Lys
NM_007300.3:c.5004C>A	NP_009231.2:p.Asn1668Lys
NR_027676.1:n.5077C>A
NM_007294.4:c.4941C>A MANE Select	NP_009225.1:p.Asn1647Lys
NM_007297.4:c.4800C>A	NP_009228.2:p.Asn1600Lys
NM_007299.4:c.1629C>A	NP_009230.2:p.Asn543Lys
NM_007300.4:c.5004C>A	NP_009231.2:p.Asn1668Lys
NR_027676.2:n.5118C>A