Canonical Allele Identifier: CA003017

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 187395
• ClinVar RCV Id: RCV000167119 ; RCV000548491
• dbSNP Id: rs786203699
• gnomAD v4: 17-43071139-T-C
• MyVariant Identifiers: chr17:g.41223156T>C (hg19) ; chr17:g.43071139T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071139T>C , CM000679.2:g.43071139T>C	GRCh38
NC_000017.10:g.41223156T>C , CM000679.1:g.41223156T>C	GRCh37
NC_000017.9:g.38476682T>C	NCBI36
NG_005905.2:g.146845A>G , LRG_292:g.146845A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4772A>G	ENSP00000417241.2:p.Asn1591Ser
ENST00000470026.6:c.4775A>G	ENSP00000419274.2:p.Asn1592Ser
ENST00000473961.6:c.4649A>G	ENSP00000420201.2:p.Asn1550Ser
ENST00000476777.6:c.4769A>G	ENSP00000417554.2:p.Asn1590Ser
ENST00000477152.6:c.4697A>G	ENSP00000419988.2:p.Asn1566Ser
ENST00000478531.6:c.1463A>G	ENSP00000420412.2:p.Asn488Ser
ENST00000489037.2:c.4697A>G	ENSP00000420781.2:p.Asn1566Ser
ENST00000493919.6:c.1325A>G	ENSP00000418819.2:p.Asn442Ser
ENST00000494123.6:c.4775A>G	ENSP00000419103.2:p.Asn1592Ser
ENST00000497488.2:c.3887A>G	ENSP00000418986.2:p.Asn1296Ser
ENST00000618469.2:c.4775A>G	ENSP00000478114.2:p.Asn1592Ser
ENST00000634433.2:c.4652A>G	ENSP00000489431.2:p.Asn1551Ser
ENST00000644379.2:c.4841A>G	ENSP00000496570.2:p.Asn1614Ser
ENST00000644555.2:c.1325A>G	ENSP00000494614.2:p.Asn442Ser
ENST00000652672.2:c.4634A>G	ENSP00000498906.2:p.Asn1545Ser
ENST00000484087.6:c.1337A>G	ENSP00000419481.2:p.Asn446Ser
ENST00000700182.1:c.1382A>G	ENSP00000514849.1:p.Asn461Ser
ENST00000357654.9:c.4775A>G MANE Select	ENSP00000350283.3:p.Asn1592Ser
ENST00000471181.7:c.4838A>G	ENSP00000418960.2:p.Asn1613Ser
ENST00000644379.1:c.1162A>G
ENST00000352993.7:c.1349A>G	ENSP00000312236.5:p.Asn450Ser
ENST00000357654.7:c.4775A>G	ENSP00000350283.3:p.Asn1592Ser
ENST00000461221.5:c.*4558A>G	ENSP00000418548.1:n.*4558A>G
ENST00000468300.5:c.1463A>G	ENSP00000417148.1:p.Asn488Ser
ENST00000471181.6:c.4838A>G	ENSP00000418960.2:p.Asn1613Ser
ENST00000478531.5:c.1463A>G	ENSP00000420412.1:p.Asn488Ser
ENST00000484087.5:c.1088A>G	ENSP00000419481.1:p.Asn363Ser
ENST00000491747.6:c.1463A>G	ENSP00000420705.2:p.Asn488Ser
ENST00000493795.5:c.4634A>G	ENSP00000418775.1:p.Asn1545Ser
ENST00000493919.5:c.1325A>G	ENSP00000418819.1:p.Asn442Ser
ENST00000586385.5:c.5-7188A>G	ENSP00000465818.1:n.5-7188A>G
ENST00000591534.5:c.248A>G	ENSP00000467329.1:p.Asn83Ser
ENST00000591849.5:c.-98-20949A>G	ENSP00000465347.1:n.-98-20949A>G
NM_007294.3:c.4775A>G , LRG_292t1:c.4775A>G	NP_009225.1:p.Asn1592Ser
NM_007297.3:c.4634A>G	NP_009228.2:p.Asn1545Ser
NM_007298.3:c.1463A>G	NP_009229.2:p.Asn488Ser
NM_007299.3:c.1463A>G	NP_009230.2:p.Asn488Ser
NM_007300.3:c.4838A>G	NP_009231.2:p.Asn1613Ser
NR_027676.1:n.4911A>G
NM_007294.4:c.4775A>G MANE Select	NP_009225.1:p.Asn1592Ser
NM_007297.4:c.4634A>G	NP_009228.2:p.Asn1545Ser
NM_007299.4:c.1463A>G	NP_009230.2:p.Asn488Ser
NM_007300.4:c.4838A>G	NP_009231.2:p.Asn1613Ser
NR_027676.2:n.4952A>G