Canonical Allele Identifier: CA003255

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 188417
• ClinVar RCV Id: RCV000657151 ; RCV001077631
• dbSNP Id: rs786204269
• gnomAD v4: 17-43063900-C-T
• MyVariant Identifiers: chr17:g.41215917C>T (hg19) ; chr17:g.43063900C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063900C>T , CM000679.2:g.43063900C>T	GRCh38
NC_000017.10:g.41215917C>T , CM000679.1:g.41215917C>T	GRCh37
NC_000017.9:g.38469443C>T	NCBI36
NG_005905.2:g.154084G>A , LRG_292:g.154084G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5123G>A	ENSP00000417241.2:p.Gly1708Glu
ENST00000470026.6:c.5126G>A	ENSP00000419274.2:p.Gly1709Glu
ENST00000473961.6:c.5000G>A	ENSP00000420201.2:p.Gly1667Glu
ENST00000476777.6:c.5120G>A	ENSP00000417554.2:p.Gly1707Glu
ENST00000477152.6:c.5048G>A	ENSP00000419988.2:p.Gly1683Glu
ENST00000478531.6:c.1814G>A	ENSP00000420412.2:p.Gly605Glu
ENST00000489037.2:c.5048G>A	ENSP00000420781.2:p.Gly1683Glu
ENST00000493919.6:c.1676G>A	ENSP00000418819.2:p.Gly559Glu
ENST00000494123.6:c.5126G>A	ENSP00000419103.2:p.Gly1709Glu
ENST00000497488.2:c.4238G>A	ENSP00000418986.2:p.Gly1413Glu
ENST00000618469.2:c.5126G>A	ENSP00000478114.2:p.Gly1709Glu
ENST00000634433.2:c.5003G>A	ENSP00000489431.2:p.Gly1668Glu
ENST00000644379.2:c.5192G>A	ENSP00000496570.2:p.Gly1731Glu
ENST00000644555.2:c.1676G>A	ENSP00000494614.2:p.Gly559Glu
ENST00000652672.2:c.4985G>A	ENSP00000498906.2:p.Gly1662Glu
ENST00000484087.6:c.1688G>A	ENSP00000419481.2:p.Gly563Glu
ENST00000357654.9:c.5126G>A MANE Select	ENSP00000350283.3:p.Gly1709Glu
ENST00000471181.7:c.5189G>A	ENSP00000418960.2:p.Gly1730Glu
ENST00000644379.1:c.1513G>A
ENST00000352993.7:c.1700G>A	ENSP00000312236.5:p.Gly567Glu
ENST00000357654.7:c.5126G>A	ENSP00000350283.3:p.Gly1709Glu
ENST00000461221.5:c.*4909G>A	ENSP00000418548.1:n.*4909G>A
ENST00000468300.5:c.1814G>A	ENSP00000417148.1:p.Gly605Glu
ENST00000471181.6:c.5189G>A	ENSP00000418960.2:p.Gly1730Glu
ENST00000478531.5:c.1814G>A	ENSP00000420412.1:p.Gly605Glu
ENST00000484087.5:c.1439G>A	ENSP00000419481.1:p.Gly480Glu
ENST00000491747.6:c.1814G>A	ENSP00000420705.2:p.Gly605Glu
ENST00000493795.5:c.4985G>A	ENSP00000418775.1:p.Gly1662Glu
ENST00000493919.5:c.1676G>A	ENSP00000418819.1:p.Gly559Glu
ENST00000586385.5:c.56G>A	ENSP00000465818.1:p.Gly19Glu
ENST00000591534.5:c.599G>A	ENSP00000467329.1:p.Gly200Glu
ENST00000591849.5:c.-98-13710G>A	ENSP00000465347.1:n.-98-13710G>A
NM_007294.3:c.5126G>A , LRG_292t1:c.5126G>A	NP_009225.1:p.Gly1709Glu
NM_007297.3:c.4985G>A	NP_009228.2:p.Gly1662Glu
NM_007298.3:c.1814G>A	NP_009229.2:p.Gly605Glu
NM_007299.3:c.1814G>A	NP_009230.2:p.Gly605Glu
NM_007300.3:c.5189G>A	NP_009231.2:p.Gly1730Glu
NR_027676.1:n.5262G>A
NM_007294.4:c.5126G>A MANE Select	NP_009225.1:p.Gly1709Glu
NM_007297.4:c.4985G>A	NP_009228.2:p.Gly1662Glu
NM_007299.4:c.1814G>A	NP_009230.2:p.Gly605Glu
NM_007300.4:c.5189G>A	NP_009231.2:p.Gly1730Glu
NR_027676.2:n.5303G>A