Canonical Allele Identifier: CA003249

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 37638
• ClinVar RCV Id: RCV000031219 ; RCV000219187 ; RCV000221607 ; RCV000256122 ; RCV001170590
• dbSNP Id: rs80356860
• gnomAD v2: 17-41215926-C-T
• gnomAD v3: 17-43063909-C-T
• gnomAD v4: 17-43063909-C-T
• MyVariant Identifiers: chr17:g.41215926C>T (hg19) ; chr17:g.43063909C>T (hg38)
• PubMed: PMID:10755399 ; PMID:11149413 ; PMID:11573086 ; PMID:11979449 ; PMID:12955716 ; PMID:15172985 ; PMID:15235020 ; PMID:17262179 ; PMID:17305420 ; PMID:17308087 ; PMID:17550235 ; PMID:17924331 ; PMID:19804755 ; PMID:20516115 ; PMID:20727672 ; PMID:21447777 ; PMID:21990134 ; PMID:23199084 ; PMID:23867111 ; PMID:24240112 ; PMID:25682074 ; PMID:26071757 ; PMID:26780556 ; PMID:27272900 ; PMID:27742776

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063909C>T , CM000679.2:g.43063909C>T	GRCh38
NC_000017.10:g.41215926C>T , CM000679.1:g.41215926C>T	GRCh37
NC_000017.9:g.38469452C>T	NCBI36
NG_005905.2:g.154075G>A , LRG_292:g.154075G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5114G>A	ENSP00000417241.2:p.Gly1705Glu
ENST00000470026.6:c.5117G>A	ENSP00000419274.2:p.Gly1706Glu
ENST00000473961.6:c.4991G>A	ENSP00000420201.2:p.Gly1664Glu
ENST00000476777.6:c.5111G>A	ENSP00000417554.2:p.Gly1704Glu
ENST00000477152.6:c.5039G>A	ENSP00000419988.2:p.Gly1680Glu
ENST00000478531.6:c.1805G>A	ENSP00000420412.2:p.Gly602Glu
ENST00000489037.2:c.5039G>A	ENSP00000420781.2:p.Gly1680Glu
ENST00000493919.6:c.1667G>A	ENSP00000418819.2:p.Gly556Glu
ENST00000494123.6:c.5117G>A	ENSP00000419103.2:p.Gly1706Glu
ENST00000497488.2:c.4229G>A	ENSP00000418986.2:p.Gly1410Glu
ENST00000618469.2:c.5117G>A	ENSP00000478114.2:p.Gly1706Glu
ENST00000634433.2:c.4994G>A	ENSP00000489431.2:p.Gly1665Glu
ENST00000644379.2:c.5183G>A	ENSP00000496570.2:p.Gly1728Glu
ENST00000644555.2:c.1667G>A	ENSP00000494614.2:p.Gly556Glu
ENST00000652672.2:c.4976G>A	ENSP00000498906.2:p.Gly1659Glu
ENST00000484087.6:c.1679G>A	ENSP00000419481.2:p.Gly560Glu
ENST00000357654.9:c.5117G>A MANE Select	ENSP00000350283.3:p.Gly1706Glu
ENST00000471181.7:c.5180G>A	ENSP00000418960.2:p.Gly1727Glu
ENST00000644379.1:c.1504G>A
ENST00000352993.7:c.1691G>A	ENSP00000312236.5:p.Gly564Glu
ENST00000357654.7:c.5117G>A	ENSP00000350283.3:p.Gly1706Glu
ENST00000461221.5:c.*4900G>A	ENSP00000418548.1:n.*4900G>A
ENST00000468300.5:c.1805G>A	ENSP00000417148.1:p.Gly602Glu
ENST00000471181.6:c.5180G>A	ENSP00000418960.2:p.Gly1727Glu
ENST00000478531.5:c.1805G>A	ENSP00000420412.1:p.Gly602Glu
ENST00000484087.5:c.1430G>A	ENSP00000419481.1:p.Gly477Glu
ENST00000491747.6:c.1805G>A	ENSP00000420705.2:p.Gly602Glu
ENST00000493795.5:c.4976G>A	ENSP00000418775.1:p.Gly1659Glu
ENST00000493919.5:c.1667G>A	ENSP00000418819.1:p.Gly556Glu
ENST00000586385.5:c.47G>A	ENSP00000465818.1:p.Gly16Glu
ENST00000591534.5:c.590G>A	ENSP00000467329.1:p.Gly197Glu
ENST00000591849.5:c.-98-13719G>A	ENSP00000465347.1:n.-98-13719G>A
NM_007294.3:c.5117G>A , LRG_292t1:c.5117G>A	NP_009225.1:p.Gly1706Glu
NM_007297.3:c.4976G>A	NP_009228.2:p.Gly1659Glu
NM_007298.3:c.1805G>A	NP_009229.2:p.Gly602Glu
NM_007299.3:c.1805G>A	NP_009230.2:p.Gly602Glu
NM_007300.3:c.5180G>A	NP_009231.2:p.Gly1727Glu
NR_027676.1:n.5253G>A
NM_007294.4:c.5117G>A MANE Select	NP_009225.1:p.Gly1706Glu
NM_007297.4:c.4976G>A	NP_009228.2:p.Gly1659Glu
NM_007299.4:c.1805G>A	NP_009230.2:p.Gly602Glu
NM_007300.4:c.5180G>A	NP_009231.2:p.Gly1727Glu
NR_027676.2:n.5294G>A