Canonical Allele Identifier: CA10592645

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 808278
• ClinVar RCV Id: RCV001022494 ; RCV001309906 ; RCV003607365
• dbSNP Id: rs757726297
• MyVariant Identifiers: chr17:g.41228544T>C (hg19) ; chr17:g.43076527T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076527T>C , CM000679.2:g.43076527T>C	GRCh38
NC_000017.10:g.41228544T>C , CM000679.1:g.41228544T>C	GRCh37
NC_000017.9:g.38482070T>C	NCBI36
NG_005905.2:g.141457A>G , LRG_292:g.141457A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4442A>G	ENSP00000417241.2:p.Asp1481Gly
ENST00000470026.6:c.4445A>G	ENSP00000419274.2:p.Asp1482Gly
ENST00000473961.6:c.4319A>G	ENSP00000420201.2:p.Asp1440Gly
ENST00000476777.6:c.4439A>G	ENSP00000417554.2:p.Asp1480Gly
ENST00000477152.6:c.4367A>G	ENSP00000419988.2:p.Asp1456Gly
ENST00000478531.6:c.1133A>G	ENSP00000420412.2:p.Asp378Gly
ENST00000489037.2:c.4367A>G	ENSP00000420781.2:p.Asp1456Gly
ENST00000493919.6:c.995A>G	ENSP00000418819.2:p.Asp332Gly
ENST00000494123.6:c.4445A>G	ENSP00000419103.2:p.Asp1482Gly
ENST00000497488.2:c.3557A>G	ENSP00000418986.2:p.Asp1186Gly
ENST00000618469.2:c.4445A>G	ENSP00000478114.2:p.Asp1482Gly
ENST00000634433.2:c.4322A>G	ENSP00000489431.2:p.Asp1441Gly
ENST00000644379.2:c.4511A>G	ENSP00000496570.2:p.Asp1504Gly
ENST00000644555.2:c.995A>G	ENSP00000494614.2:p.Asp332Gly
ENST00000652672.2:c.4304A>G	ENSP00000498906.2:p.Asp1435Gly
ENST00000484087.6:c.1007A>G	ENSP00000419481.2:p.Asp336Gly
ENST00000700182.1:c.1052A>G	ENSP00000514849.1:p.Asp351Gly
ENST00000357654.9:c.4445A>G MANE Select	ENSP00000350283.3:p.Asp1482Gly
ENST00000471181.7:c.4508A>G	ENSP00000418960.2:p.Asp1503Gly
ENST00000644379.1:c.832A>G
ENST00000352993.7:c.1019A>G	ENSP00000312236.5:p.Asp340Gly
ENST00000357654.7:c.4445A>G	ENSP00000350283.3:p.Asp1482Gly
ENST00000461221.5:c.*4228A>G	ENSP00000418548.1:n.*4228A>G
ENST00000468300.5:c.1133A>G	ENSP00000417148.1:p.Asp378Gly
ENST00000471181.6:c.4508A>G	ENSP00000418960.2:p.Asp1503Gly
ENST00000478531.5:c.1133A>G	ENSP00000420412.1:p.Asp378Gly
ENST00000484087.5:c.758A>G	ENSP00000419481.1:p.Asp253Gly
ENST00000487825.5:c.761A>G	ENSP00000418212.1:p.Asp254Gly
ENST00000491747.6:c.1133A>G	ENSP00000420705.2:p.Asp378Gly
ENST00000493795.5:c.4304A>G	ENSP00000418775.1:p.Asp1435Gly
ENST00000493919.5:c.995A>G	ENSP00000418819.1:p.Asp332Gly
ENST00000586385.5:c.5-12576A>G	ENSP00000465818.1:n.5-12576A>G
ENST00000591534.5:c.-43-2006A>G	ENSP00000467329.1:n.-43-2006A>G
ENST00000591849.5:c.-98-26337A>G	ENSP00000465347.1:n.-98-26337A>G
ENST00000621897.1:n.336A>G
NM_007294.3:c.4445A>G , LRG_292t1:c.4445A>G	NP_009225.1:p.Asp1482Gly
NM_007297.3:c.4304A>G	NP_009228.2:p.Asp1435Gly
NM_007298.3:c.1133A>G	NP_009229.2:p.Asp378Gly
NM_007299.3:c.1133A>G	NP_009230.2:p.Asp378Gly
NM_007300.3:c.4508A>G	NP_009231.2:p.Asp1503Gly
NR_027676.1:n.4581A>G
NM_007294.4:c.4445A>G MANE Select	NP_009225.1:p.Asp1482Gly
NM_007297.4:c.4304A>G	NP_009228.2:p.Asp1435Gly
NM_007299.4:c.1133A>G	NP_009230.2:p.Asp378Gly
NM_007300.4:c.4508A>G	NP_009231.2:p.Asp1503Gly
NR_027676.2:n.4622A>G