Canonical Allele Identifier: CA003201

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 37632
• ClinVar RCV Id: RCV000031213 ; RCV000217586 ; RCV000255870 ; RCV000496924
• dbSNP Id: rs80187739
• MyVariant Identifiers: chr17:g.41219625C>T (hg19) ; chr17:g.43067608C>T (hg38)
• PubMed: PMID:9452084
• CIViC: CA003201

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067608C>T , CM000679.2:g.43067608C>T	GRCh38
NC_000017.10:g.41219625C>T , CM000679.1:g.41219625C>T	GRCh37
NC_000017.9:g.38473151C>T	NCBI36
NG_005905.2:g.150376G>A , LRG_292:g.150376G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5071G>A	ENSP00000417241.2:p.Asp1691Asn
ENST00000470026.6:c.5074G>A	ENSP00000419274.2:p.Asp1692Asn
ENST00000473961.6:c.4948G>A	ENSP00000420201.2:p.Asp1650Asn
ENST00000476777.6:c.5068G>A	ENSP00000417554.2:p.Asp1690Asn
ENST00000477152.6:c.4996G>A	ENSP00000419988.2:p.Asp1666Asn
ENST00000478531.6:c.1762G>A	ENSP00000420412.2:p.Asp588Asn
ENST00000489037.2:c.4996G>A	ENSP00000420781.2:p.Asp1666Asn
ENST00000493919.6:c.1624G>A	ENSP00000418819.2:p.Asp542Asn
ENST00000494123.6:c.5074G>A	ENSP00000419103.2:p.Asp1692Asn
ENST00000497488.2:c.4186G>A	ENSP00000418986.2:p.Asp1396Asn
ENST00000618469.2:c.5074G>A	ENSP00000478114.2:p.Asp1692Asn
ENST00000634433.2:c.4951G>A	ENSP00000489431.2:p.Asp1651Asn
ENST00000644379.2:c.5140G>A	ENSP00000496570.2:p.Asp1714Asn
ENST00000644555.2:c.1624G>A	ENSP00000494614.2:p.Asp542Asn
ENST00000652672.2:c.4933G>A	ENSP00000498906.2:p.Asp1645Asn
ENST00000484087.6:c.1636G>A	ENSP00000419481.2:p.Asp546Asn
ENST00000357654.9:c.5074G>A MANE Select	ENSP00000350283.3:p.Asp1692Asn
ENST00000471181.7:c.5137G>A	ENSP00000418960.2:p.Asp1713Asn
ENST00000644379.1:c.1461G>A
ENST00000352993.7:c.1648G>A	ENSP00000312236.5:p.Asp550Asn
ENST00000357654.7:c.5074G>A	ENSP00000350283.3:p.Asp1692Asn
ENST00000461221.5:c.*4857G>A	ENSP00000418548.1:n.*4857G>A
ENST00000468300.5:c.1762G>A	ENSP00000417148.1:p.Asp588Asn
ENST00000471181.6:c.5137G>A	ENSP00000418960.2:p.Asp1713Asn
ENST00000472490.1:n.227G>A
ENST00000478531.5:c.1762G>A	ENSP00000420412.1:p.Asp588Asn
ENST00000484087.5:c.1387G>A	ENSP00000419481.1:p.Asp463Asn
ENST00000491747.6:c.1762G>A	ENSP00000420705.2:p.Asp588Asn
ENST00000493795.5:c.4933G>A	ENSP00000418775.1:p.Asp1645Asn
ENST00000493919.5:c.1624G>A	ENSP00000418819.1:p.Asp542Asn
ENST00000586385.5:c.5-3657G>A	ENSP00000465818.1:n.5-3657G>A
ENST00000591534.5:c.547G>A	ENSP00000467329.1:p.Asp183Asn
ENST00000591849.5:c.-98-17418G>A	ENSP00000465347.1:n.-98-17418G>A
NM_007294.3:c.5074G>A , LRG_292t1:c.5074G>A	NP_009225.1:p.Asp1692Asn
NM_007297.3:c.4933G>A	NP_009228.2:p.Asp1645Asn
NM_007298.3:c.1762G>A	NP_009229.2:p.Asp588Asn
NM_007299.3:c.1762G>A	NP_009230.2:p.Asp588Asn
NM_007300.3:c.5137G>A	NP_009231.2:p.Asp1713Asn
NR_027676.1:n.5210G>A
NM_007294.4:c.5074G>A MANE Select	NP_009225.1:p.Asp1692Asn
NM_007297.4:c.4933G>A	NP_009228.2:p.Asp1645Asn
NM_007299.4:c.1762G>A	NP_009230.2:p.Asp588Asn
NM_007300.4:c.5137G>A	NP_009231.2:p.Asp1713Asn
NR_027676.2:n.5251G>A