Canonical Allele Identifier: CA002936

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55245
• ClinVar RCV Id: RCV001353447 ; RCV001811341
• dbSNP Id: rs28897691
• ExAC: 17:41226387 C / T
• gnomAD v2: 17-41226387-C-T
• gnomAD v3: 17-43074370-C-T
• gnomAD v4: 17-43074370-C-T
• MyVariant Identifiers: chr17:g.41226387C>T (hg19) ; chr17:g.43074370C>T (hg38)
• PubMed: PMID:12402332 ; PMID:15235020 ; PMID:16014699 ; PMID:17308087 ; PMID:18992264 ; PMID:20104584 ; PMID:21156238 ; PMID:21990134 ; PMID:22713736

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074370C>T , CM000679.2:g.43074370C>T	GRCh38
NC_000017.10:g.41226387C>T , CM000679.1:g.41226387C>T	GRCh37
NC_000017.9:g.38479913C>T	NCBI36
NG_005905.2:g.143614G>A , LRG_292:g.143614G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4633G>A	ENSP00000417241.2:p.Asp1545Asn
ENST00000470026.6:c.4636G>A	ENSP00000419274.2:p.Asp1546Asn
ENST00000473961.6:c.4510G>A	ENSP00000420201.2:p.Asp1504Asn
ENST00000476777.6:c.4630G>A	ENSP00000417554.2:p.Asp1544Asn
ENST00000477152.6:c.4558G>A	ENSP00000419988.2:p.Asp1520Asn
ENST00000478531.6:c.1324G>A	ENSP00000420412.2:p.Asp442Asn
ENST00000489037.2:c.4558G>A	ENSP00000420781.2:p.Asp1520Asn
ENST00000493919.6:c.1186G>A	ENSP00000418819.2:p.Asp396Asn
ENST00000494123.6:c.4636G>A	ENSP00000419103.2:p.Asp1546Asn
ENST00000497488.2:c.3748G>A	ENSP00000418986.2:p.Asp1250Asn
ENST00000618469.2:c.4636G>A	ENSP00000478114.2:p.Asp1546Asn
ENST00000634433.2:c.4513G>A	ENSP00000489431.2:p.Asp1505Asn
ENST00000644379.2:c.4702G>A	ENSP00000496570.2:p.Asp1568Asn
ENST00000644555.2:c.1186G>A	ENSP00000494614.2:p.Asp396Asn
ENST00000652672.2:c.4495G>A	ENSP00000498906.2:p.Asp1499Asn
ENST00000484087.6:c.1198G>A	ENSP00000419481.2:p.Asp400Asn
ENST00000700182.1:c.1243G>A	ENSP00000514849.1:p.Asp415Asn
ENST00000357654.9:c.4636G>A MANE Select	ENSP00000350283.3:p.Asp1546Asn
ENST00000471181.7:c.4699G>A	ENSP00000418960.2:p.Asp1567Asn
ENST00000644379.1:c.1023G>A
ENST00000352993.7:c.1210G>A	ENSP00000312236.5:p.Asp404Asn
ENST00000357654.7:c.4636G>A	ENSP00000350283.3:p.Asp1546Asn
ENST00000461221.5:c.*4419G>A	ENSP00000418548.1:n.*4419G>A
ENST00000468300.5:c.1324G>A	ENSP00000417148.1:p.Asp442Asn
ENST00000471181.6:c.4699G>A	ENSP00000418960.2:p.Asp1567Asn
ENST00000478531.5:c.1324G>A	ENSP00000420412.1:p.Asp442Asn
ENST00000484087.5:c.949G>A	ENSP00000419481.1:p.Asp317Asn
ENST00000491747.6:c.1324G>A	ENSP00000420705.2:p.Asp442Asn
ENST00000493795.5:c.4495G>A	ENSP00000418775.1:p.Asp1499Asn
ENST00000493919.5:c.1186G>A	ENSP00000418819.1:p.Asp396Asn
ENST00000586385.5:c.5-10419G>A	ENSP00000465818.1:n.5-10419G>A
ENST00000591534.5:c.109G>A	ENSP00000467329.1:p.Asp37Asn
ENST00000591849.5:c.-98-24180G>A	ENSP00000465347.1:n.-98-24180G>A
NM_007294.3:c.4636G>A , LRG_292t1:c.4636G>A	NP_009225.1:p.Asp1546Asn
NM_007297.3:c.4495G>A	NP_009228.2:p.Asp1499Asn
NM_007298.3:c.1324G>A	NP_009229.2:p.Asp442Asn
NM_007299.3:c.1324G>A	NP_009230.2:p.Asp442Asn
NM_007300.3:c.4699G>A	NP_009231.2:p.Asp1567Asn
NR_027676.1:n.4772G>A
NM_007294.4:c.4636G>A MANE Select	NP_009225.1:p.Asp1546Asn
NM_007297.4:c.4495G>A	NP_009228.2:p.Asp1499Asn
NM_007299.4:c.1324G>A	NP_009230.2:p.Asp442Asn
NM_007300.4:c.4699G>A	NP_009231.2:p.Asp1567Asn
NR_027676.2:n.4813G>A