Canonical Allele Identifier: CA10591398

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 433721
• ClinVar RCV Id: RCV000502014 ; RCV001077504 ; RCV001269393
• dbSNP Id: rs1555579627
• gnomAD v4: 17-43067622-A-C
• MyVariant Identifiers: chr17:g.41219639A>C (hg19) ; chr17:g.43067622A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5057T>G	ENSP00000417241.2:p.Val1686Gly
ENST00000470026.6:c.5060T>G	ENSP00000419274.2:p.Val1687Gly
ENST00000473961.6:c.4934T>G	ENSP00000420201.2:p.Val1645Gly
ENST00000476777.6:c.5054T>G	ENSP00000417554.2:p.Val1685Gly
ENST00000477152.6:c.4982T>G	ENSP00000419988.2:p.Val1661Gly
ENST00000478531.6:c.1748T>G	ENSP00000420412.2:p.Val583Gly
ENST00000489037.2:c.4982T>G	ENSP00000420781.2:p.Val1661Gly
ENST00000493919.6:c.1610T>G	ENSP00000418819.2:p.Val537Gly
ENST00000494123.6:c.5060T>G	ENSP00000419103.2:p.Val1687Gly
ENST00000497488.2:c.4172T>G	ENSP00000418986.2:p.Val1391Gly
ENST00000618469.2:c.5060T>G	ENSP00000478114.2:p.Val1687Gly
ENST00000634433.2:c.4937T>G	ENSP00000489431.2:p.Val1646Gly
ENST00000644379.2:c.5126T>G	ENSP00000496570.2:p.Val1709Gly
ENST00000644555.2:c.1610T>G	ENSP00000494614.2:p.Val537Gly
ENST00000652672.2:c.4919T>G	ENSP00000498906.2:p.Val1640Gly
ENST00000484087.6:c.1622T>G	ENSP00000419481.2:p.Val541Gly
ENST00000357654.9:c.5060T>G MANE Select	ENSP00000350283.3:p.Val1687Gly
ENST00000471181.7:c.5123T>G	ENSP00000418960.2:p.Val1708Gly
ENST00000644379.1:c.1447T>G
ENST00000352993.7:c.1634T>G	ENSP00000312236.5:p.Val545Gly
ENST00000357654.7:c.5060T>G	ENSP00000350283.3:p.Val1687Gly
ENST00000461221.5:c.*4843T>G	ENSP00000418548.1:n.*4843T>G
ENST00000468300.5:c.1748T>G	ENSP00000417148.1:p.Val583Gly
ENST00000471181.6:c.5123T>G	ENSP00000418960.2:p.Val1708Gly
ENST00000472490.1:n.213T>G
ENST00000478531.5:c.1748T>G	ENSP00000420412.1:p.Val583Gly
ENST00000484087.5:c.1373T>G	ENSP00000419481.1:p.Val458Gly
ENST00000491747.6:c.1748T>G	ENSP00000420705.2:p.Val583Gly
ENST00000493795.5:c.4919T>G	ENSP00000418775.1:p.Val1640Gly
ENST00000493919.5:c.1610T>G	ENSP00000418819.1:p.Val537Gly
ENST00000586385.5:c.5-3671T>G	ENSP00000465818.1:n.5-3671T>G
ENST00000591534.5:c.533T>G	ENSP00000467329.1:p.Val178Gly
ENST00000591849.5:c.-98-17432T>G	ENSP00000465347.1:n.-98-17432T>G
NM_007294.3:c.5060T>G , LRG_292t1:c.5060T>G	NP_009225.1:p.Val1687Gly
NM_007297.3:c.4919T>G	NP_009228.2:p.Val1640Gly
NM_007298.3:c.1748T>G	NP_009229.2:p.Val583Gly
NM_007299.3:c.1748T>G	NP_009230.2:p.Val583Gly
NM_007300.3:c.5123T>G	NP_009231.2:p.Val1708Gly
NR_027676.1:n.5196T>G
NM_007294.4:c.5060T>G MANE Select	NP_009225.1:p.Val1687Gly
NM_007297.4:c.4919T>G	NP_009228.2:p.Val1640Gly
NM_007299.4:c.1748T>G	NP_009230.2:p.Val583Gly
NM_007300.4:c.5123T>G	NP_009231.2:p.Val1708Gly
NR_027676.2:n.5237T>G