Canonical Allele Identifier: CA10592751

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 801075
• ClinVar RCV Id: RCV001819691
• dbSNP Id: rs1567779778
• gnomAD v4: 17-43076579-T-C
• MyVariant Identifiers: chr17:g.41228596T>C (hg19) ; chr17:g.43076579T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076579T>C , CM000679.2:g.43076579T>C	GRCh38
NC_000017.10:g.41228596T>C , CM000679.1:g.41228596T>C	GRCh37
NC_000017.9:g.38482122T>C	NCBI36
NG_005905.2:g.141405A>G , LRG_292:g.141405A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4390A>G	ENSP00000417241.2:p.Ile1464Val
ENST00000470026.6:c.4393A>G	ENSP00000419274.2:p.Ile1465Val
ENST00000473961.6:c.4267A>G	ENSP00000420201.2:p.Ile1423Val
ENST00000476777.6:c.4387A>G	ENSP00000417554.2:p.Ile1463Val
ENST00000477152.6:c.4315A>G	ENSP00000419988.2:p.Ile1439Val
ENST00000478531.6:c.1081A>G	ENSP00000420412.2:p.Ile361Val
ENST00000489037.2:c.4315A>G	ENSP00000420781.2:p.Ile1439Val
ENST00000493919.6:c.943A>G	ENSP00000418819.2:p.Ile315Val
ENST00000494123.6:c.4393A>G	ENSP00000419103.2:p.Ile1465Val
ENST00000497488.2:c.3505A>G	ENSP00000418986.2:p.Ile1169Val
ENST00000618469.2:c.4393A>G	ENSP00000478114.2:p.Ile1465Val
ENST00000634433.2:c.4270A>G	ENSP00000489431.2:p.Ile1424Val
ENST00000644379.2:c.4459A>G	ENSP00000496570.2:p.Ile1487Val
ENST00000644555.2:c.943A>G	ENSP00000494614.2:p.Ile315Val
ENST00000652672.2:c.4252A>G	ENSP00000498906.2:p.Ile1418Val
ENST00000484087.6:c.955A>G	ENSP00000419481.2:p.Ile319Val
ENST00000700182.1:c.1000A>G	ENSP00000514849.1:p.Ile334Val
ENST00000357654.9:c.4393A>G MANE Select	ENSP00000350283.3:p.Ile1465Val
ENST00000471181.7:c.4456A>G	ENSP00000418960.2:p.Ile1486Val
ENST00000644379.1:c.780A>G
ENST00000352993.7:c.967A>G	ENSP00000312236.5:p.Ile323Val
ENST00000357654.7:c.4393A>G	ENSP00000350283.3:p.Ile1465Val
ENST00000461221.5:c.*4176A>G	ENSP00000418548.1:n.*4176A>G
ENST00000461574.1:c.684A>G
ENST00000468300.5:c.1081A>G	ENSP00000417148.1:p.Ile361Val
ENST00000471181.6:c.4456A>G	ENSP00000418960.2:p.Ile1486Val
ENST00000478531.5:c.1081A>G	ENSP00000420412.1:p.Ile361Val
ENST00000484087.5:c.706A>G	ENSP00000419481.1:p.Ile236Val
ENST00000487825.5:c.709A>G	ENSP00000418212.1:p.Ile237Val
ENST00000491747.6:c.1081A>G	ENSP00000420705.2:p.Ile361Val
ENST00000493795.5:c.4252A>G	ENSP00000418775.1:p.Ile1418Val
ENST00000493919.5:c.943A>G	ENSP00000418819.1:p.Ile315Val
ENST00000586385.5:c.5-12628A>G	ENSP00000465818.1:n.5-12628A>G
ENST00000591534.5:c.-43-2058A>G	ENSP00000467329.1:n.-43-2058A>G
ENST00000591849.5:c.-98-26389A>G	ENSP00000465347.1:n.-98-26389A>G
ENST00000621897.1:n.284A>G
NM_007294.3:c.4393A>G , LRG_292t1:c.4393A>G	NP_009225.1:p.Ile1465Val
NM_007297.3:c.4252A>G	NP_009228.2:p.Ile1418Val
NM_007298.3:c.1081A>G	NP_009229.2:p.Ile361Val
NM_007299.3:c.1081A>G	NP_009230.2:p.Ile361Val
NM_007300.3:c.4456A>G	NP_009231.2:p.Ile1486Val
NR_027676.1:n.4529A>G
NM_007294.4:c.4393A>G MANE Select	NP_009225.1:p.Ile1465Val
NM_007297.4:c.4252A>G	NP_009228.2:p.Ile1418Val
NM_007299.4:c.1081A>G	NP_009230.2:p.Ile361Val
NM_007300.4:c.4456A>G	NP_009231.2:p.Ile1486Val
NR_027676.2:n.4570A>G