Canonical Allele Identifier: CA003596

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 37670
• ClinVar RCV Id: RCV000031251 ; RCV000496797 ; RCV000484398 ; RCV000574861 ; RCV001390965
• dbSNP Id: rs1800751
• gnomAD v2: 17-41199693-G-C
• gnomAD v4: 17-43047676-G-C
• MyVariant Identifiers: chr17:g.41199693G>C (hg19) ; chr17:g.43047676G>C (hg38)
• PubMed: PMID:12955716 ; PMID:14517958 ; PMID:17020472 ; PMID:17453335 ; PMID:19452558 ; PMID:20522429 ; PMID:21447777 ; PMID:21673748 ; PMID:22505045 ; PMID:27495310 ; PMID:28781887

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047676G>C , CM000679.2:g.43047676G>C	GRCh38
NC_000017.10:g.41199693G>C , CM000679.1:g.41199693G>C	GRCh37
NC_000017.9:g.38453219G>C	NCBI36
NG_005905.2:g.170308C>G , LRG_292:g.170308C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5431C>G	ENSP00000417241.2:p.Pro1811Ala
ENST00000470026.6:c.5434C>G	ENSP00000419274.2:p.Pro1812Ala
ENST00000473961.6:c.5308C>G	ENSP00000420201.2:p.Pro1770Ala
ENST00000476777.6:c.5428C>G	ENSP00000417554.2:p.Pro1810Ala
ENST00000477152.6:c.5356C>G	ENSP00000419988.2:p.Pro1786Ala
ENST00000478531.6:c.2122C>G	ENSP00000420412.2:p.Pro708Ala
ENST00000489037.2:c.5356C>G	ENSP00000420781.2:p.Pro1786Ala
ENST00000493919.6:c.1984C>G	ENSP00000418819.2:p.Pro662Ala
ENST00000494123.6:c.5434C>G	ENSP00000419103.2:p.Pro1812Ala
ENST00000497488.2:c.4546C>G	ENSP00000418986.2:p.Pro1516Ala
ENST00000618469.2:c.5434C>G	ENSP00000478114.2:p.Pro1812Ala
ENST00000634433.2:c.5311C>G	ENSP00000489431.2:p.Pro1771Ala
ENST00000644379.2:c.5500C>G	ENSP00000496570.2:p.Pro1834Ala
ENST00000644555.2:c.1984C>G	ENSP00000494614.2:p.Pro662Ala
ENST00000652672.2:c.5293C>G	ENSP00000498906.2:p.Pro1765Ala
ENST00000484087.6:c.1996C>G	ENSP00000419481.2:p.Pro666Ala
ENST00000700081.1:n.1317C>G
ENST00000700082.1:n.798C>G
ENST00000357654.9:c.5434C>G MANE Select	ENSP00000350283.3:p.Pro1812Ala
ENST00000471181.7:c.5497C>G	ENSP00000418960.2:p.Pro1833Ala
ENST00000644379.1:c.1821C>G
ENST00000352993.7:c.2008C>G	ENSP00000312236.5:p.Pro670Ala
ENST00000357654.7:c.5434C>G	ENSP00000350283.3:p.Pro1812Ala
ENST00000461221.5:c.*5217C>G	ENSP00000418548.1:n.*5217C>G
ENST00000468300.5:c.2048C>G	ENSP00000417148.1:p.Ala683Gly
ENST00000471181.6:c.5497C>G	ENSP00000418960.2:p.Pro1833Ala
ENST00000491747.6:c.2122C>G	ENSP00000420705.2:p.Pro708Ala
ENST00000493795.5:c.5293C>G	ENSP00000418775.1:p.Pro1765Ala
ENST00000586385.5:c.364C>G	ENSP00000465818.1:p.Pro122Ala
ENST00000591534.5:c.907C>G	ENSP00000467329.1:p.Pro303Ala
ENST00000591849.5:c.133C>G	ENSP00000465347.1:p.Pro45Ala
NM_007294.3:c.5434C>G , LRG_292t1:c.5434C>G	NP_009225.1:p.Pro1812Ala
NM_007297.3:c.5293C>G	NP_009228.2:p.Pro1765Ala
NM_007298.3:c.2122C>G	NP_009229.2:p.Pro708Ala
NM_007299.3:c.2048C>G	NP_009230.2:p.Ala683Gly
NM_007300.3:c.5497C>G	NP_009231.2:p.Pro1833Ala
NR_027676.1:n.5570C>G
NM_007294.4:c.5434C>G MANE Select	NP_009225.1:p.Pro1812Ala
NM_007297.4:c.5293C>G	NP_009228.2:p.Pro1765Ala
NM_007299.4:c.2048C>G	NP_009230.2:p.Ala683Gly
NM_007300.4:c.5497C>G	NP_009231.2:p.Pro1833Ala
NR_027676.2:n.5611C>G