Canonical Allele Identifier: CA10591942

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 420037
• ClinVar RCV Id: RCV000486809 ; RCV000509938 ; RCV000661272 ; RCV001045842
• dbSNP Id: rs80357429
• COSMIC: COSM4442033 ; COSM4442034
• MyVariant Identifiers: chr17:g.41223144G>T (hg19) ; chr17:g.43071127G>T (hg38)
• PubMed: PMID:25556971

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071127G>T , CM000679.2:g.43071127G>T	GRCh38
NC_000017.10:g.41223144G>T , CM000679.1:g.41223144G>T	GRCh37
NC_000017.9:g.38476670G>T	NCBI36
NG_005905.2:g.146857C>A , LRG_292:g.146857C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4784C>A	ENSP00000417241.2:p.Ser1595Ter
ENST00000470026.6:c.4787C>A	ENSP00000419274.2:p.Ser1596Ter
ENST00000473961.6:c.4661C>A	ENSP00000420201.2:p.Ser1554Ter
ENST00000476777.6:c.4781C>A	ENSP00000417554.2:p.Ser1594Ter
ENST00000477152.6:c.4709C>A	ENSP00000419988.2:p.Ser1570Ter
ENST00000478531.6:c.1475C>A	ENSP00000420412.2:p.Ser492Ter
ENST00000489037.2:c.4709C>A	ENSP00000420781.2:p.Ser1570Ter
ENST00000493919.6:c.1337C>A	ENSP00000418819.2:p.Ser446Ter
ENST00000494123.6:c.4787C>A	ENSP00000419103.2:p.Ser1596Ter
ENST00000497488.2:c.3899C>A	ENSP00000418986.2:p.Ser1300Ter
ENST00000618469.2:c.4787C>A	ENSP00000478114.2:p.Ser1596Ter
ENST00000634433.2:c.4664C>A	ENSP00000489431.2:p.Ser1555Ter
ENST00000644379.2:c.4853C>A	ENSP00000496570.2:p.Ser1618Ter
ENST00000644555.2:c.1337C>A	ENSP00000494614.2:p.Ser446Ter
ENST00000652672.2:c.4646C>A	ENSP00000498906.2:p.Ser1549Ter
ENST00000484087.6:c.1349C>A	ENSP00000419481.2:p.Ser450Ter
ENST00000700182.1:c.1394C>A	ENSP00000514849.1:p.Ser465Ter
ENST00000357654.9:c.4787C>A MANE Select	ENSP00000350283.3:p.Ser1596Ter
ENST00000471181.7:c.4850C>A	ENSP00000418960.2:p.Ser1617Ter
ENST00000644379.1:c.1174C>A
ENST00000352993.7:c.1361C>A	ENSP00000312236.5:p.Ser454Ter
ENST00000357654.7:c.4787C>A	ENSP00000350283.3:p.Ser1596Ter
ENST00000461221.5:c.*4570C>A	ENSP00000418548.1:n.*4570C>A
ENST00000468300.5:c.1475C>A	ENSP00000417148.1:p.Ser492Ter
ENST00000471181.6:c.4850C>A	ENSP00000418960.2:p.Ser1617Ter
ENST00000478531.5:c.1475C>A	ENSP00000420412.1:p.Ser492Ter
ENST00000484087.5:c.1100C>A	ENSP00000419481.1:p.Ser367Ter
ENST00000491747.6:c.1475C>A	ENSP00000420705.2:p.Ser492Ter
ENST00000493795.5:c.4646C>A	ENSP00000418775.1:p.Ser1549Ter
ENST00000493919.5:c.1337C>A	ENSP00000418819.1:p.Ser446Ter
ENST00000586385.5:c.5-7176C>A	ENSP00000465818.1:n.5-7176C>A
ENST00000591534.5:c.260C>A	ENSP00000467329.1:p.Ser87Ter
ENST00000591849.5:c.-98-20937C>A	ENSP00000465347.1:n.-98-20937C>A
NM_007294.3:c.4787C>A , LRG_292t1:c.4787C>A	NP_009225.1:p.Ser1596Ter
NM_007297.3:c.4646C>A	NP_009228.2:p.Ser1549Ter
NM_007298.3:c.1475C>A	NP_009229.2:p.Ser492Ter
NM_007299.3:c.1475C>A	NP_009230.2:p.Ser492Ter
NM_007300.3:c.4850C>A	NP_009231.2:p.Ser1617Ter
NR_027676.1:n.4923C>A
NM_007294.4:c.4787C>A MANE Select	NP_009225.1:p.Ser1596Ter
NM_007297.4:c.4646C>A	NP_009228.2:p.Ser1549Ter
NM_007299.4:c.1475C>A	NP_009230.2:p.Ser492Ter
NM_007300.4:c.4850C>A	NP_009231.2:p.Ser1617Ter
NR_027676.2:n.4964C>A