Canonical Allele Identifier: CA10591399

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868577
• ClinVar RCV Id: RCV001077503
• dbSNP Id: rs1555579627
• gnomAD v4: 17-43067622-A-G
• MyVariant Identifiers: chr17:g.41219639A>G (hg19) ; chr17:g.43067622A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067622A>G , CM000679.2:g.43067622A>G	GRCh38
NC_000017.10:g.41219639A>G , CM000679.1:g.41219639A>G	GRCh37
NC_000017.9:g.38473165A>G	NCBI36
NG_005905.2:g.150362T>C , LRG_292:g.150362T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5057T>C	ENSP00000417241.2:p.Val1686Ala
ENST00000470026.6:c.5060T>C	ENSP00000419274.2:p.Val1687Ala
ENST00000473961.6:c.4934T>C	ENSP00000420201.2:p.Val1645Ala
ENST00000476777.6:c.5054T>C	ENSP00000417554.2:p.Val1685Ala
ENST00000477152.6:c.4982T>C	ENSP00000419988.2:p.Val1661Ala
ENST00000478531.6:c.1748T>C	ENSP00000420412.2:p.Val583Ala
ENST00000489037.2:c.4982T>C	ENSP00000420781.2:p.Val1661Ala
ENST00000493919.6:c.1610T>C	ENSP00000418819.2:p.Val537Ala
ENST00000494123.6:c.5060T>C	ENSP00000419103.2:p.Val1687Ala
ENST00000497488.2:c.4172T>C	ENSP00000418986.2:p.Val1391Ala
ENST00000618469.2:c.5060T>C	ENSP00000478114.2:p.Val1687Ala
ENST00000634433.2:c.4937T>C	ENSP00000489431.2:p.Val1646Ala
ENST00000644379.2:c.5126T>C	ENSP00000496570.2:p.Val1709Ala
ENST00000644555.2:c.1610T>C	ENSP00000494614.2:p.Val537Ala
ENST00000652672.2:c.4919T>C	ENSP00000498906.2:p.Val1640Ala
ENST00000484087.6:c.1622T>C	ENSP00000419481.2:p.Val541Ala
ENST00000357654.9:c.5060T>C MANE Select	ENSP00000350283.3:p.Val1687Ala
ENST00000471181.7:c.5123T>C	ENSP00000418960.2:p.Val1708Ala
ENST00000644379.1:c.1447T>C
ENST00000352993.7:c.1634T>C	ENSP00000312236.5:p.Val545Ala
ENST00000357654.7:c.5060T>C	ENSP00000350283.3:p.Val1687Ala
ENST00000461221.5:c.*4843T>C	ENSP00000418548.1:n.*4843T>C
ENST00000468300.5:c.1748T>C	ENSP00000417148.1:p.Val583Ala
ENST00000471181.6:c.5123T>C	ENSP00000418960.2:p.Val1708Ala
ENST00000472490.1:n.213T>C
ENST00000478531.5:c.1748T>C	ENSP00000420412.1:p.Val583Ala
ENST00000484087.5:c.1373T>C	ENSP00000419481.1:p.Val458Ala
ENST00000491747.6:c.1748T>C	ENSP00000420705.2:p.Val583Ala
ENST00000493795.5:c.4919T>C	ENSP00000418775.1:p.Val1640Ala
ENST00000493919.5:c.1610T>C	ENSP00000418819.1:p.Val537Ala
ENST00000586385.5:c.5-3671T>C	ENSP00000465818.1:n.5-3671T>C
ENST00000591534.5:c.533T>C	ENSP00000467329.1:p.Val178Ala
ENST00000591849.5:c.-98-17432T>C	ENSP00000465347.1:n.-98-17432T>C
NM_007294.3:c.5060T>C , LRG_292t1:c.5060T>C	NP_009225.1:p.Val1687Ala
NM_007297.3:c.4919T>C	NP_009228.2:p.Val1640Ala
NM_007298.3:c.1748T>C	NP_009229.2:p.Val583Ala
NM_007299.3:c.1748T>C	NP_009230.2:p.Val583Ala
NM_007300.3:c.5123T>C	NP_009231.2:p.Val1708Ala
NR_027676.1:n.5196T>C
NM_007294.4:c.5060T>C MANE Select	NP_009225.1:p.Val1687Ala
NM_007297.4:c.4919T>C	NP_009228.2:p.Val1640Ala
NM_007299.4:c.1748T>C	NP_009230.2:p.Val583Ala
NM_007300.4:c.5123T>C	NP_009231.2:p.Val1708Ala
NR_027676.2:n.5237T>C